MBOAT7membrane bound O-acyltransferase domain containing 7
Autism Reports / Total Reports
4 / 22Rare Variants / Common Variants
41 / 0Aliases
MBOAT7, BB1, LENG4, LPIAT, LRC4, MBOA7, OACT7, hMBOA-7Associated Syndromes
-Chromosome Band
19q13.42Associated Disorders
DD/NDD, ADHD, ID, EPS, ASDGenetic Category
Rare Single Gene Mutation, SyndromicRelevance to Autism
Homozygous variants in the MBOAT7 gene were identified in 16 affected individuals presenting with intellectual disability from six consanguineous families; ASD was documented in seven of these individuals according to the Childhood Autism Rating Scale, and three additional individuals showed clinical autistic features (Johansen et al., 2016).
Molecular Function
This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle.
External Links
SFARI Genomic Platforms
Reports related to MBOAT7 (22 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | Synaptic, transcriptional and chromatin genes disrupted in autism | De Rubeis S , et al. (2014) | Yes | - |
2 | Primary | Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features | Johansen A , et al. (2016) | No | Epilepsy/seizures, ASD or autistic features |
3 | Support | Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect | Yalnzolu D , et al. (2019) | No | Autistic features (hand stereotypies) |
4 | Support | Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population | Monies D , et al. (2019) | No | DD, autistic features |
5 | Support | Expanding the phenotypic spectrum of MBOAT7-related intellectual disability | Jacher JE , et al. (2019) | No | Macrocephaly |
6 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
7 | Support | Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families | Khan S et al. (2019) | No | DD, ID, epilepsy/seizures |
8 | Support | Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability | Heidari E et al. (2020) | No | DD, ID, epilepsy/seizures, autistic behavior, ster |
9 | Recent Recommendation | Genome-wide detection of tandem DNA repeats that are expanded in autism | Trost B et al. (2020) | Yes | - |
10 | Support | A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile | Farnè M et al. (2020) | No | DD, ID, epilepsy/seizures, ADHD |
11 | Support | - | Sun L et al. (2020) | No | DD, ID, epilepsy/seizures, ADHD, impaired social i |
12 | Support | - | Valentino F et al. (2021) | No | Epilepsy/seizures, stereotypy |
13 | Support | - | Ozpinar E et al. (Nov-) | No | Epilepsy/seizures |
14 | Support | - | Lee J et al. (2022) | No | - |
15 | Support | - | Asif M et al. (2022) | No | Epilepsy/seizures |
16 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
17 | Support | - | Ronzoni L et al. (2023) | No | Stereotypy |
18 | Support | - | Gul Nazmina et al. (2024) | No | ASD, stereotypy |
19 | Support | - | Purvi Majethia et al. (2024) | No | DD, ID, stereotypy |
20 | Support | - | Huimin Li et al. (2024) | No | Autistic features |
21 | Support | - | Alyamama Kousa et al. (2024) | No | Autistic features |
22 | Support | - | Axel Schmidt et al. (2024) | No | - |
Rare Variants (41)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | microsatellite | Unknown | - | Simplex | 32717741 | Trost B et al. (2020) | |
- | - | microsatellite | Unknown | - | Unknown | 32717741 | Trost B et al. (2020) | |
- | - | microsatellite | Unknown | - | Multiplex | 32717741 | Trost B et al. (2020) | |
c.477C>G | p.Tyr159Ter | stop_gained | Familial | - | - | 34356170 | Valentino F et al. (2021) | |
c.669C>G | p.Tyr223Ter | stop_gained | De novo | - | Simplex | 38407511 | Huimin Li et al. (2024) | |
c.739G>C | p.Val247Leu | missense_variant | Unknown | - | - | 39039281 | Axel Schmidt et al. (2024) | |
c.823G>A | p.Gly275Ser | missense_variant | Unknown | - | - | 39039281 | Axel Schmidt et al. (2024) | |
c.339G>A | p.Val113= | synonymous_variant | De novo | - | - | 25363760 | De Rubeis S , et al. (2014) | |
- | - | copy_number_loss | Familial | Both parents | Multiplex | 30701556 | Yalnzolu D , et al. (2019) | |
c.604G>A | p.Gly202Ser | missense_variant | - | Both parents | Unknown | 31130284 | Monies D , et al. (2019) | |
c.-16-167A>C | - | splice_site_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.1290C>A | p.Tyr430Ter | stop_gained | Familial | Both parents | - | 38374498 | Purvi Majethia et al. (2024) | |
c.477C>G | p.Tyr159Ter | stop_gained | Familial | Both parents | Simplex | 37628684 | Ronzoni L et al. (2023) | |
c.812+2T>C | - | splice_site_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.1095C>G | p.Ser365Arg | missense_variant | Familial | Maternal | Simplex | 38407511 | Huimin Li et al. (2024) | |
c.8552A>G | p.? | splice_site_variant | Familial | Both parents | Simplex | 31282596 | Jacher JE , et al. (2019) | |
c.757G>A | p.Glu253Lys | missense_variant | Familial | Both parents | Multiplex | 35509994 | Lee J et al. (2022) | |
c.1062C>A | p.Tyr354Ter | stop_gained | Familial | Both parents | Multiplex | 32645526 | Heidari E et al. (2020) | |
c.259C>T | p.Arg87Ter | stop_gained | Familial | Both parents | Multiplex | 30701556 | Yalnzolu D , et al. (2019) | |
c.635+1G>C | - | splice_site_variant | Familial | Both parents | Multiplex | 27616480 | Johansen A , et al. (2016) | |
c.757G>A | p.Glu253Lys | missense_variant | Familial | Both parents | Multiplex | 36672789 | Asif M et al. (2022) | |
c.1278G>A | p.Trp426Ter | stop_gained | Familial | Both parents | Multiplex | 30701556 | Yalnzolu D , et al. (2019) | |
c.782del | p.Lys261ArgfsTer18 | frameshift_variant | - | Both parents | Unknown | 31130284 | Monies D , et al. (2019) | |
c.524A>C | p.Asp175Ala | missense_variant | Familial | Both parents | Simplex | 38088234 | Gul Nazmina et al. (2024) | |
c.736T>C | p.Tyr246His | missense_variant | Familial | Both parents | Simplex | 38088234 | Gul Nazmina et al. (2024) | |
- | p.Arg271ProfsTer25 | frameshift_variant | Familial | Both parents | Multiplex | 34979703 | Ozpinar E et al. (Nov-) | |
c.1126G>A | p.Glu376Lys | missense_variant | Familial | Both parents | Simplex | 30701556 | Yalnzolu D , et al. (2019) | |
c.588G>T | p.Trp196Cys | missense_variant | Familial | Both parents | Multiplex | 38088234 | Gul Nazmina et al. (2024) | |
c.758_778del | p.Glu253_Ala259del | inframe_deletion | Familial | Both parents | Multiplex | 33335874 | Sun L et al. (2020) | |
c.1135del | p.Leu379TrpfsTer9 | frameshift_variant | Familial | Both parents | Simplex | 32645526 | Heidari E et al. (2020) | |
c.758_778del | p.Glu253_Ala259del | inframe_deletion | Familial | Both parents | Multiplex | 31852446 | Khan S et al. (2019) | |
c.838_839delinsCA | p.Ala280His | missense_variant | Familial | Both parents | Simplex | 32744787 | Farnè M et al. (2020) | |
c.204del | p.Leu69CysfsTer8 | frameshift_variant | Familial | Both parents | Multiplex | 27616480 | Johansen A , et al. (2016) | |
c.680_690del | p.Leu227ProfsTer65 | frameshift_variant | Familial | Both parents | Simplex | 30701556 | Yalnzolu D , et al. (2019) | |
c.539_559del | p.Glu180_Ala186del | inframe_deletion | Familial | Both parents | Multiplex | 27616480 | Johansen A , et al. (2016) | |
c.758_778del | p.Glu253_Ala259del | inframe_deletion | Familial | Both parents | Multiplex | 38088234 | Gul Nazmina et al. (2024) | |
c.121del | p.Leu41SerfsTer68 | frameshift_variant | Familial | Both parents | Multiplex | 38694353 | Alyamama Kousa et al. (2024) | |
c.758_778del | p.Glu253_Ala259del | inframe_deletion | Familial | Both parents | Extended multiplex | 33335874 | Sun L et al. (2020) | |
c.758_778del | p.Glu253_Ala259del | inframe_deletion | Familial | Both parents | Extended multiplex | 31852446 | Khan S et al. (2019) | |
c.34_53del | p.Pro12ThrfsTer27 | frameshift_variant | Familial | Both parents | Extended multiplex | 27616480 | Johansen A , et al. (2016) | |
c.820_826del | p.Gly274ProfsTer47 | frameshift_variant | Familial | Both parents | Extended multiplex | 27616480 | Johansen A , et al. (2016) |
Common Variants
No common variants reported.
SFARI Gene score
High Confidence, Syndromic
Score Delta: Score remained at 1S
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
The 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."
1/1/2021
Score remained at 1
Description
Homozygous variants in the MBOAT7 gene were identified in 16 affected individuals presenting with intellectual disability from six consanguineous families; ASD was documented in seven of these individuals according to the Childhood Autism Rating Scale, and three additional individuals showed clinical autistic features (Johansen et al., 2016). In addition to intellectual disability and ASD/autistic features, affected individuals frequently presented with epilepsy, truncal hypotonia and appendicular hypertonia; structural brain abnormalities were only observed in a few cases (cortical atrophy in two cases, possible polymicrogyria in others), and few if any dysmorphic features were reported. Yalnizoglu et al., 2019 presented an additional 12 patients from 7 consanguineous Turkish families with homozygous MBOAT7 variants; 4 of these individuals presented with autistic features (stereotypic hand movements).
7/1/2020
Score remained at 1
Description
Homozygous variants in the MBOAT7 gene were identified in 16 affected individuals presenting with intellectual disability from six consanguineous families; ASD was documented in seven of these individuals according to the Childhood Autism Rating Scale, and three additional individuals showed clinical autistic features (Johansen et al., 2016). In addition to intellectual disability and ASD/autistic features, affected individuals frequently presented with epilepsy, truncal hypotonia and appendicular hypertonia; structural brain abnormalities were only observed in a few cases (cortical atrophy in two cases, possible polymicrogyria in others), and few if any dysmorphic features were reported. Yalnizoglu et al., 2019 presented an additional 12 patients from 7 consanguineous Turkish families with homozygous MBOAT7 variants; 4 of these individuals presented with autistic features (stereotypic hand movements).
Reports Added
[Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability2020] [Genome-wide detection of tandem DNA repeats that are expanded in autism2020] [A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile2020]4/1/2020
Score remained at 1
Description
Homozygous variants in the MBOAT7 gene were identified in 16 affected individuals presenting with intellectual disability from six consanguineous families; ASD was documented in seven of these individuals according to the Childhood Autism Rating Scale, and three additional individuals showed clinical autistic features (Johansen et al., 2016). In addition to intellectual disability and ASD/autistic features, affected individuals frequently presented with epilepsy, truncal hypotonia and appendicular hypertonia; structural brain abnormalities were only observed in a few cases (cortical atrophy in two cases, possible polymicrogyria in others), and few if any dysmorphic features were reported. Yalnizoglu et al., 2019 presented an additional 12 patients from 7 consanguineous Turkish families with homozygous MBOAT7 variants; 4 of these individuals presented with autistic features (stereotypic hand movements).
10/1/2019
Decreased from 2S to 1
New Scoring Scheme
Description
Homozygous variants in the MBOAT7 gene were identified in 16 affected individuals presenting with intellectual disability from six consanguineous families; ASD was documented in seven of these individuals according to the Childhood Autism Rating Scale, and three additional individuals showed clinical autistic features (Johansen et al., 2016). In addition to intellectual disability and ASD/autistic features, affected individuals frequently presented with epilepsy, truncal hypotonia and appendicular hypertonia; structural brain abnormalities were only observed in a few cases (cortical atrophy in two cases, possible polymicrogyria in others), and few if any dysmorphic features were reported. Yalnizoglu et al., 2019 presented an additional 12 patients from 7 consanguineous Turkish families with homozygous MBOAT7 variants; 4 of these individuals presented with autistic features (stereotypic hand movements).
Reports Added
[New Scoring Scheme]7/1/2019
Decreased from 2S to 2S
Description
Homozygous variants in the MBOAT7 gene were identified in 16 affected individuals presenting with intellectual disability from six consanguineous families; ASD was documented in seven of these individuals according to the Childhood Autism Rating Scale, and three additional individuals showed clinical autistic features (Johansen et al., 2016). In addition to intellectual disability and ASD/autistic features, affected individuals frequently presented with epilepsy, truncal hypotonia and appendicular hypertonia; structural brain abnormalities were only observed in a few cases (cortical atrophy in two cases, possible polymicrogyria in others), and few if any dysmorphic features were reported. Yalnizoglu et al., 2019 presented an additional 12 patients from 7 consanguineous Turkish families with homozygous MBOAT7 variants; 4 of these individuals presented with autistic features (stereotypic hand movements).
4/1/2019
Decreased from 2S to 2S
Description
Homozygous variants in the MBOAT7 gene were identified in 16 affected individuals presenting with intellectual disability from six consanguineous families; ASD was documented in seven of these individuals according to the Childhood Autism Rating Scale, and three additional individuals showed clinical autistic features (Johansen et al., 2016). In addition to intellectual disability and ASD/autistic features, affected individuals frequently presented with epilepsy, truncal hypotonia and appendicular hypertonia; structural brain abnormalities were only observed in a few cases (cortical atrophy in two cases, possible polymicrogyria in others), and few if any dysmorphic features were reported.
10/1/2016
Increased from to 2S
Description
Homozygous variants in the MBOAT7 gene were identified in 16 affected individuals presenting with intellectual disability from six consanguineous families; ASD was documented in seven of these individuals according to the Childhood Autism Rating Scale, and three additional individuals showed clinical autistic features (Johansen et al., 2016). In addition to intellectual disability and ASD/autistic features, affected individuals frequently presented with epilepsy, truncal hypotonia and appendicular hypertonia; structural brain abnormalities were only observed in a few cases (cortical atrophy in two cases, possible polymicrogyria in others), and few if any dysmorphic features were reported.
Krishnan Probability Score
Score 0.53897402696166
Ranking 1452/25841 scored genes
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ExAC Score
Score 0.046319589476461
Ranking 8636/18225 scored genes
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Sanders TADA Score
Score 0.9307631445874
Ranking 11516/18665 scored genes
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Zhang D Score
Score 0.052787652039636
Ranking 7163/20870 scored genes
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