DMDdystrophin (muscular dystrophy, Duchenne and Becker types)
Autism Reports / Total Reports
25 / 49Rare Variants / Common Variants
41 / 5Aliases
DMD, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS2 72Associated Syndromes
-Chromosome Band
Xp21.2-p21.1Associated Disorders
ADHD, ID, ASD, EPSGenetic Category
Rare Single Gene Mutation, Syndromic, Genetic AssociationRelevance to Autism
This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In addition, studies have found positive genetic associations between the DMD gene and ASD in US and European population samples (Wang et al., 2009; Chung et al., 2011). Also, rare mutations involving the DMD gene have been identified in individuals with ASD (Pinto et al., 2010).
Molecular Function
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy.
External Links
SFARI Genomic Platforms
Reports related to DMD (49 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Association of Duchenne muscular dystrophy with autism spectrum disorder | Wu JY , et al. (2006) | No | ASD |
| 2 | Recent Recommendation | Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs | Sampaolesi M , et al. (2006) | No | - |
| 3 | Recent Recommendation | PTC124 targets genetic disorders caused by nonsense mutations | Welch EM , et al. (2007) | No | - |
| 4 | Recent Recommendation | Cognitive and psychological profile of males with Becker muscular dystrophy | Young HK , et al. (2007) | No | - |
| 5 | Recent Recommendation | Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive--compulsive disorder | Hendriksen JG and Vles JS (2008) | No | - |
| 6 | Recent Recommendation | An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan | Ayalon G , et al. (2008) | No | - |
| 7 | Positive Association | Common genetic variants on 5p14.1 associate with autism spectrum disorders | Wang K , et al. (2009) | Yes | - |
| 8 | Recent Recommendation | Association of autistic spectrum disorders with dystrophinopathies | Hinton VJ , et al. (2009) | No | - |
| 9 | Support | Functional impact of global rare copy number variation in autism spectrum disorders | Pinto D , et al. (2010) | Yes | - |
| 10 | Positive Association | An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males | Chung RH , et al. (2011) | Yes | - |
| 11 | Support | Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies | Willemsen MH , et al. (2012) | No | ASD, ADHD |
| 12 | Positive Association | A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale | Connolly JJ , et al. (2012) | Yes | - |
| 13 | Recent Recommendation | Wnt7a treatment ameliorates muscular dystrophy | von Maltzahn J , et al. (2012) | No | - |
| 14 | Support | A discovery resource of rare copy number variations in individuals with autism spectrum disorder | Prasad A , et al. (2013) | Yes | - |
| 15 | Support | Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders | Lim ET , et al. (2013) | Yes | - |
| 16 | Support | Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders | Nava C , et al. (2013) | Yes | ID |
| 17 | Support | Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing | Jiang YH , et al. (2013) | Yes | - |
| 18 | Support | A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy | de Brouwer AP , et al. (2013) | No | - |
| 19 | Support | Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder | Koshimizu E , et al. (2013) | Yes | ID, epilepsy |
| 20 | Support | Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders | Kenny EM , et al. (2013) | Yes | - |
| 21 | Support | Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel | Brett M , et al. (2014) | Yes | MCA |
| 22 | Support | Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing | Redin C , et al. (2014) | No | - |
| 23 | Positive Association | The dystrophin gene and cognitive function in the general population | Vojinovic D , et al. (2014) | No | - |
| 24 | Support | Large-scale discovery of novel genetic causes of developmental disorders | Deciphering Developmental Disorders Study (2014) | No | - |
| 25 | Recent Recommendation | Integrated systems analysis reveals a molecular network underlying autism spectrum disorders | Li J , et al. (2015) | Yes | - |
| 26 | Support | Whole-genome sequencing of quartet families with autism spectrum disorder | Yuen RK , et al. (2015) | Yes | - |
| 27 | Recent Recommendation | Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy | Banihani R , et al. (2015) | No | - |
| 28 | Recent Recommendation | Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system | Ricotti V , et al. (2015) | No | - |
| 29 | Recent Recommendation | Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations | Ricotti V , et al. (2015) | No | - |
| 30 | Support | Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease | Karaca E , et al. (2015) | No | Microcephaly |
| 31 | Support | Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior | Doan RN , et al. (2016) | Yes | - |
| 32 | Support | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder | Krupp DR , et al. (2017) | Yes | - |
| 33 | Support | Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders | Schluth-Bolard C , et al. (2019) | No | ID |
| 34 | Support | Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients | Balicza P , et al. (2019) | Yes | Duchenne muscular dystrophy |
| 35 | Support | Genetic landscape of autism spectrum disorder in Vietnamese children | Tran KT et al. (2020) | Yes | - |
| 36 | Highly Cited | The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein | Koenig M , et al. (1988) | No | - |
| 37 | Highly Cited | Dystrophin: the protein product of the Duchenne muscular dystrophy locus | Hoffman EP , et al. (1987) | No | - |
| 38 | Support | - | Simone M et al. (2021) | Yes | Epilepsy/seizures |
| 39 | Support | - | Du X et al. (2021) | No | - |
| 40 | Support | - | Zhou X et al. (2022) | Yes | - |
| 41 | Support | - | Folland C et al. (2023) | Yes | - |
| 42 | Support | - | Lowther C et al. (2023) | Yes | - |
| 43 | Support | - | Amerh S Alqahtani et al. (2023) | No | - |
| 44 | Support | - | Mona Abdi et al. (2023) | Yes | - |
| 45 | Support | - | Anjana Chandrasekhar et al. (2024) | Yes | - |
| 46 | Support | - | Axel Schmidt et al. (2024) | No | - |
| 47 | Support | - | Mohammad-Reza Ghasemi et al. (2024) | Yes | DD, ID |
| 48 | Support | - | Karen Lob et al. () | Yes | DD |
| 49 | Highly Cited | A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin | Ervasti JM and Campbell KP (1993) | No | - |
Rare Variants (41)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | copy_number_loss | - | - | - | 16417872 | Wu JY , et al. (2006) | |
| - | - | copy_number_loss | Unknown | - | - | 34773222 | Du X et al. (2021) | |
| - | - | copy_number_loss | Unknown | - | - | 39136901 | Karen Lob et al. () | |
| - | - | copy_number_loss | Unknown | - | - | 34640386 | Simone M et al. (2021) | |
| - | - | inversion | Unknown | - | Simplex | 37090938 | Folland C et al. (2023) | |
| - | - | SVA_insertion | Unknown | - | Simplex | 37595579 | Lowther C et al. (2023) | |
| - | - | copy_number_gain | Unknown | - | Unknown | 23275889 | Prasad A , et al. (2013) | |
| - | - | copy_number_loss | Unknown | - | Unknown | 23275889 | Prasad A , et al. (2013) | |
| c.8-106532dup | - | intron_variant | - | - | Unknown | 27667684 | Doan RN , et al. (2016) | |
| - | - | copy_number_gain | Familial | Maternal | - | 22796527 | Willemsen MH , et al. (2012) | |
| - | - | copy_number_loss | Familial | Maternal | Simplex | 23632794 | Nava C , et al. (2013) | |
| - | - | copy_number_loss | Familial | Maternal | Unknown | 23275889 | Prasad A , et al. (2013) | |
| - | - | copy_number_gain | Familial | Maternal | Multiplex | 20531469 | Pinto D , et al. (2010) | |
| - | - | copy_number_loss | Familial | Maternal | Multiplex | 20531469 | Pinto D , et al. (2010) | |
| - | - | copy_number_loss | Familial | Maternal | Multiplex | 25621899 | Yuen RK , et al. (2015) | |
| c.8753T>G | p.Leu2918Trp | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| - | - | copy_number_loss | Familial | Maternal | Multiplex | 26539891 | Karaca E , et al. (2015) | |
| c.1292G>A | p.Trp431Ter | stop_gained | Unknown | - | - | 39039281 | Axel Schmidt et al. (2024) | |
| c.7386A>G | p.Pro2462%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.10238+1G>A | - | splice_site_variant | Unknown | - | Unknown | 23352160 | Lim ET , et al. (2013) | |
| - | - | complex_structural_alteration | De novo | - | - | 30923172 | Schluth-Bolard C , et al. (2019) | |
| - | - | inversion | Familial | Maternal | Multiplex | 37929330 | Anjana Chandrasekhar et al. (2024) | |
| c.2971G>C | p.Glu991Gln | missense_variant | Unknown | - | Unknown | 25549968 | Li J , et al. (2015) | |
| c.9350A>T | p.Lys3117Met | missense_variant | Unknown | - | - | 39039281 | Axel Schmidt et al. (2024) | |
| c.8426G>A | p.Arg2809His | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.8753T>G | p.Leu2918Trp | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.8713C>T | p.Arg2905Ter | stop_gained | Familial | Maternal | - | 31134136 | Balicza P , et al. (2019) | |
| c.4917G>A | p.Thr1639= | synonymous_variant | De novo | - | Simplex | 28867142 | Krupp DR , et al. (2017) | |
| c.7310-1G>A | - | splice_site_variant | Unknown | - | Unknown | 37799141 | Amerh S Alqahtani et al. (2023) | |
| c.2473A>G | p.Met825Val | missense_variant | Unknown | - | Unknown | 24066114 | Koshimizu E , et al. (2013) | |
| c.4187C>T | p.Ala1396Val | splice_site_variant | Unknown | - | Unknown | 24126926 | Kenny EM , et al. (2013) | |
| c.3479A>G | p.Asn1160Ser | missense_variant | Unknown | - | Unknown | 24066114 | Koshimizu E , et al. (2013) | |
| c.1138C>T | p.His380Tyr | missense_variant | Familial | Maternal | Simplex | 32193494 | Tran KT et al. (2020) | |
| c.2877A>C | p.Glu959Asp | missense_variant | Familial | Maternal | Simplex | 32193494 | Tran KT et al. (2020) | |
| c.1132C>G | p.Gln378Glu | missense_variant | Familial | Maternal | Simplex | 37805537 | Mona Abdi et al. (2023) | |
| c.5477G>T | p.Arg1826Ile | missense_variant | Familial | Maternal | Simplex | 23849776 | Jiang YH , et al. (2013) | |
| c.5485C>G | p.Gln1829Glu | missense_variant | Familial | Maternal | Multiplex | 24690944 | Brett M , et al. (2014) | |
| c.631T>A | p.Leu211Met | missense_variant | De novo | - | Simplex | 39103847 | Mohammad-Reza Ghasemi et al. (2024) | |
| c.10889del | p.Arg3630GlnfsTer27 | frameshift_variant | Familial | Maternal | Multiplex | 25167861 | Redin C , et al. (2014) | |
| c.8452G>A | p.Asp2818Asn | missense_variant | De novo | - | Unknown | 25533962 | Deciphering Developmental Disorders Study (2014) | |
| c.9711_9713del | p.Leu3238del | inframe_deletion | Familial | Maternal | Multi-generational | 23900271 | de Brouwer AP , et al. (2013) |
Common Variants (5)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.8-107769T>C;c.31+83313T>C;c.19+178T>C;c.-339+94T>C | A/G | intron_variant | - | - | - | 25227141 | Vojinovic D , et al. (2014) | |
| c.2144+4944G>A;c.2168+4944G>A;c.2156+4944G>A;c.1799+4944G>A;c.2039+4944G>A | T/C | intron_variant | - | - | - | 22050706 | Chung RH , et al. (2011) | |
| c.3408+1266T>C;c.3432+1266T>C;c.3420+1266T>C;c.3063+1266T>C;c.3303+1266T>C;c.1062+1266T>C | A/G | intron_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| c.3408+1266T>C;c.3432+1266T>C;c.3420+1266T>C;c.3063+1266T>C;c.3303+1266T>C;c.1062+1266T>C | - | intron_variant | - | - | - | 22935194 | Connolly JJ , et al. (2012) | |
| c.6439C>T;c.6463C>T;c.6451C>T;c.6094C>T;c.2440C>T;c.2431C>T;c.-918C>T;c.6334C>T;c.6325C>T;c.4093C>T | p.Arg2147Trp | missense_variant | - | - | - | 25227141 | Vojinovic D , et al. (2014) |
SFARI Gene score
S
Syndromic
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
Score Delta: Score remained at S
criteria met
See SFARI Gene'scoring criteriaThe syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."
4/1/2020
S
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
10/1/2019
S
S
Score remained at S
New Scoring Scheme
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
Reports Added
[New Scoring Scheme]7/1/2019
S
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
4/1/2019
S
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
10/1/2017
S
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
10/1/2016
S
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
1/1/2016
S
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
Reports Added
[Common genetic variants on 5p14.1 associate with autism spectrum disorders.2009] [Functional impact of global rare copy number variation in autism spectrum disorders.2010] [An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.2011] [A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...2012] [A discovery resource of rare copy number variations in individuals with autism spectrum disorder.2013] [Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.2013] [Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.2013] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.2015] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.2013] [Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.2013] [The dystrophin gene and cognitive function in the general population.2014] [Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...2012] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Association of Duchenne muscular dystrophy with autism spectrum disorder.2006] [A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.2013] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.1988] [Dystrophin: the protein product of the Duchenne muscular dystrophy locus.1987] [A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.1993] [Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs.2006] [PTC124 targets genetic disorders caused by nonsense mutations.2007] [Cognitive and psychological profile of males with Becker muscular dystrophy.2007] [Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spe...2008] [An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan.2008] [Association of autistic spectrum disorders with dystrophinopathies.2009] [Wnt7a treatment ameliorates muscular dystrophy.2012] [Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.2015] [Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.2015] [Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.2015] [Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.2015]7/1/2015
S
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
Reports Added
[Common genetic variants on 5p14.1 associate with autism spectrum disorders.2009] [Functional impact of global rare copy number variation in autism spectrum disorders.2010] [An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.2011] [A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...2012] [A discovery resource of rare copy number variations in individuals with autism spectrum disorder.2013] [Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.2013] [Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.2013] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.2015] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.2013] [Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.2013] [The dystrophin gene and cognitive function in the general population.2014] [Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...2012] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Association of Duchenne muscular dystrophy with autism spectrum disorder.2006] [A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.2013] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.1988] [Dystrophin: the protein product of the Duchenne muscular dystrophy locus.1987] [A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.1993] [Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs.2006] [PTC124 targets genetic disorders caused by nonsense mutations.2007] [Cognitive and psychological profile of males with Becker muscular dystrophy.2007] [Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spe...2008] [An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan.2008] [Association of autistic spectrum disorders with dystrophinopathies.2009] [Wnt7a treatment ameliorates muscular dystrophy.2012] [Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.2015] [Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.2015]1/1/2015
S
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
Reports Added
[Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.2015] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.2013] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.2015]10/1/2014
S
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
4/1/2014
No data
S
Score remained at S
Description
Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.
Krishnan Probability Score
Score 0.59802942073656
Ranking 421/25841 scored genes
[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning
approach on a human brain-specific gene network. The method was first presented in Nat
Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed
in column G of supplementary table 3 (see:
http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser,
with the ability to view networks of associated ASD risk genes, can be found at
asd.princeton.edu.
ExAC Score
Score 0.99999999980353
Ranking 79/18225 scored genes
[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has
been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by
Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at
exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of-
function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of-
function mutations in autism in such a gene would be more likely to confer risk. For a full list of
pLI scores see:
ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle
aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score
Score 0.95085432302808
Ranking 18654/18665 scored genes
[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013),
and is a statistic that integrates evidence from both de novo and transmitted mutations.
It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233
(2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper
(the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Zhang D Score
Score 0.017497291663294
Ranking 8140/20870 scored genes
[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures),
or D score, was developed to combine evidence from de novo loss-of- function mutation with
evidence from cell-type- specific gene expression in the mouse brain (specifically translational
profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with
positive D scores are more likely to be associated with autism risk, with higher-confidence genes
having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204-
215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in
supplementary table 2 from that paper.
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
| Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
|---|---|---|---|---|---|
| ANK2 | ankyrin 2, neuronal | Human | Protein Binding | 287 | Q01484 |
| Cadps | Ca2+-dependent secretion activator | Mouse | Protein Binding | 27062 | Q80TJ1 |
| CTNNAL1 | catenin (cadherin-associated protein), alpha-like 1 | Human | Protein Binding | 8727 | Q9UBT7 |
| DTNA | dystrobrevin, alpha | Human | Protein Binding | 1837 | Q9Y4J8 |
| DTNB | dystrobrevin, beta | Human | Protein Binding | 1838 | B7Z6A9 |
| FASLG | Fas ligand (TNF superfamily, member 6) | Human | Protein Binding | 356 | P25445 |
| HAUS4 | HAUS augmin-like complex subunit 4 | Human | Protein Binding | 54930 | Q9H6D7-2 |
| IFIT5 | interferon-induced protein with tetratricopeptide repeats 5 | Human | Protein Binding | 24138 | Q13325 |
| Kcnj12 | potassium inwardly-rectifying channel, subfamily J, member 12 | Rat | Protein Binding | 117052 | P52188 |
| KCNJ4 | potassium inwardly-rectifying channel, subfamily J, member 4 | Human | Protein Binding | 3761 | P48050 |
| LONRF3 | LON peptidase N-terminal domain and ring finger 3 | Human | Protein Binding | 79836 | Q496Y0 |
| LPAR6 | Lysophosphatidic acid receptor 6 | Human | Protein Binding | 10161 | P43657 |
| LRRC8E | leucine rich repeat containing 8 family, member E | Human | Protein Binding | 80131 | Q6NSJ5 |
| MAP3K5 | mitogen-activated protein kinase kinase kinase 5 | Human | Protein Binding | 4217 | Q99683 |
| MIR146B | microRNA 146b | Human | Direct Regulation | 574447 | |
| MIR31 | microRNA 31 | Human | Direct Regulation | 407035 | N/A |
| MIR374A | microRNA 374a | Human | Direct Regulation | 442919 | N/A |
| MPP6 | membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) | Human | Protein Binding | 51678 | Q9NZW5 |
| NOS1 | nitric oxide synthase 1 (neuronal) | Human | Protein Binding | 4842 | A0PJJ7 |
| Pgm5 | phosphoglucomutase 5 | Mouse | Protein Binding | 226041 | Q8BZF8 |
| Sgca | sarcoglycan, alpha (dystrophin-associated glycoprotein) | Mouse | Protein Binding | 20391 | P82350 |
| Sgcb | sarcoglycan, beta (dystrophin-associated glycoprotein) | Mouse | Protein Binding | 24051 | P82349 |
| Sgcd | sarcoglycan, delta (dystrophin-associated glycoprotein) | Mouse | Protein Binding | 24052 | P82347 |
| Sgcz | sarcoglycan zeta | Mouse | Protein Binding | 244431 | Q8BX51 |
| SIRT2 | sirtuin 2 | Human | Protein Binding | 22933 | Q8IXJ6 |
| SNTB1 | syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) | Human | Protein Binding | 6641 | Q13884 |
| SNTB2 | syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) | Human | Protein Binding | 6645 | Q13425 |
| SNTG1 | syntrophin, gamma 1 | Human | Protein Binding | 54212 | Q9NSN8 |
| SNTG2 | syntrophin, gamma 2 | Human | Protein Binding | 54221 | Q9NY99 |
| SYNM | synemin, intermediate filament protein | Human | Protein Binding | 23336 | O15061 |
| Tnnt2 | troponin T2, cardiac | Mouse | Protein Binding | 21956 | P50752 |
| WDR54 | WD repeat-containing protein 54 | Human | Protein Binding | 84058 | Q9H977 |