Human Gene Module / Chromosome 19 / MBOAT7

MBOAT7membrane bound O-acyltransferase domain containing 7

SFARI Gene Score
1S
High Confidence, Syndromic Criteria 1.1, Syndromic
Autism Reports / Total Reports
4 / 24
Rare Variants / Common Variants
60 / 0
EAGLE Score
5.25
Limited Learn More
Aliases
MBOAT7, BB1,  LENG4,  LPIAT,  LRC4,  MBOA7,  OACT7,  hMBOA-7
Associated Syndromes
-
Chromosome Band
19q13.42
Associated Disorders
DD/NDD, ADHD, ID, EPS, ASD
Genetic Category
Rare Single Gene Mutation, Syndromic, Functional
Relevance 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
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
Mouse
Entrez GeneMouse Genome InformaticsAllen Brain Atlas
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to MBOAT7 (24 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 -
23 Support - Isaac Tang et al. (2025) No -
24 Support - Sebastian Ortiz De la Rosa et al. () No ASD or autistic features
Rare Variants   (60)
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.519C>A p.Tyr173Ter stop_gained Familial - Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.812+2T>C - splice_site_variant Familial Paternal Multiplex 37506195 Cirnigliaro M et al. (2023)
c.77-2A>C p.? splice_site_variant Familial - Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
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.482G>A p.Gly161Glu missense_variant Familial - Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.497C>T p.Pro166Leu missense_variant Familial - Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.823G>A p.Gly275Ser missense_variant Familial - Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.782del p.Lys261ArgfsTer18 frameshift_variant - Both parents Unknown 31130284 Monies D , et al. (2019)
c.1031G>A p.Arg344Gln missense_variant Familial - Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
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.912C>A p.Cys304Ter stop_gained Familial Maternal Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.588G>T p.Trp196Cys missense_variant Familial Both parents Multiplex 38088234 Gul Nazmina et al. (2024)
c.977G>A p.Trp326Ter stop_gained Familial Both parents Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.596C>G p.Pro199Arg missense_variant Familial Paternal Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
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.1250T>C p.Leu417Pro missense_variant Familial Paternal Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
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.971_985del p.Val324_Leu328del inframe_deletion Familial - Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.761G>A p.Cys254Tyr missense_variant Familial Both parents Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.823G>A p.Gly275Ser missense_variant Familial Both parents Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.400_412del p.Phe134ProfsTer12 frameshift_variant Familial - Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
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.757_769del p.Glu253LeufsTer66 frameshift_variant Familial - Multiplex 40116760 Sebastian Ortiz De la Rosa et al. ()
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.472_477dupTGCTAC p.Cys158_Tyr159dup inframe_insertion Familial - Multiplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.34_53del p.Pro12ThrfsTer27 frameshift_variant Familial Both parents Extended multiplex 27616480 Johansen A , et al. (2016)
c.680_690del p.Leu227ProfsTer65 frameshift_variant Familial Both parents Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.758_778del p.Glu253_Ala259del inframe_deletion Familial Both parents Multiplex 40116760 Sebastian Ortiz De la Rosa et al. ()
c.820_826del p.Gly274ProfsTer47 frameshift_variant Familial Both parents Extended multiplex 27616480 Johansen A , et al. (2016)
c.1154_1172del p.Gly385AlafsTer12 frameshift_variant Familial Both parents Simplex 40116760 Sebastian Ortiz De la Rosa et al. ()
Common Variants  

No common variants reported.

SFARI Gene score
1S

High Confidence, Syndromic

Score Delta: Score remained at 1S

criteria met
See SFARI Gene'scoring criteria
1

High Confidence

See all Category 1 Genes

We 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.

S

Syndromic

See all Category S Genes

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
1
icon
1

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
[Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families2020]
7/1/2020
1
icon
1

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
1
icon
1

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
[Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families2019]
10/1/2019
2S
icon
1

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
2S
icon
2S

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).

Reports Added
[Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.2019] [Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.2019] [Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.2019]
4/1/2019
2S
icon
2S

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.

Reports Added
[Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.2019]
10/1/2016
icon
2S

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


[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.
Original Source
ExAC Score

Score 0.046319589476461

Ranking 8636/18225 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
Original Source
Sanders TADA Score

Score 0.9307631445874

Ranking 11516/18665 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).
Original Source
Zhang D Score

Score 0.052787652039636

Ranking 7163/20870 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.
Original Source
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