Human Gene Module / Chromosome 19 / MBOAT7

MBOAT7membrane bound O-acyltransferase domain containing 7

Score
2S
Strong Candidate, Syndromic Criteria 2.1, Syndromic
Autism Reports / Total Reports
1 / 2
Rare Variants / Common Variants
7 / 0
Aliases
MBOAT7, BB1,  LENG4,  LPIAT,  LRC4,  MBOA7,  OACT7,  hMBOA-7
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
19q13.42
Associated Disorders
EPS, ASD
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 CardEntrez GeneOMIMUniProtHumanBasePubMed
Reports related to MBOAT7 (2 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 Feat... Johansen A , et al. (2016) No Epilepsy/seizures, ASD or autistic features
Rare Variants   (7)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.339G>A p.(=) synonymous_variant De novo - - 25363760 De Rubeis S , et al. (2014)
c.[126_145del20];[126_145del20] p.[Leu43HisfsTer69];[Leu43HisfsTer69] frameshift_variant;frameshift_variant Familial Both parents Extended multiplex 27616480 Johansen A , et al. (2016)
c.[758_778del21];[758_778del21] p.[Gln253_Ala259del];[Gln253_Ala259del] inframe_deletion;inframe_deletion Familial Both parents Multiplex 27616480 Johansen A , et al. (2016)
c.[758_778del21];[758_778del21] p.[Gln253_Ala259del];[Gln253_Ala259del] inframe_deletion;inframe_deletion Familial Both parents Multiplex 27616480 Johansen A , et al. (2016)
c.[423delG];[423delG] p.[Leu142CysfsTer8];[Leu142CysfsTer8] frameshift_variant;frameshift_variant Familial Both parents Multiplex 27616480 Johansen A , et al. (2016)
c.[854+1G>C];[854+1G>C] - splice_site_variant;splice_site_variant Familial Both parents Multiplex 27616480 Johansen A , et al. (2016)
c.[820_826del];[820_826del] p.[Gly274ProfsTer47];[Gly274ProfsTer47] frameshift_variant;frameshift_variant Familial Both parents Extended multiplex 27616480 Johansen A , et al. (2016)
Common Variants  

No common variants reported.

SFARI Gene score
2S

Strong Candidate, Syndromic

2S

Score Delta: Score remained at 2.1 + S

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 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."

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
CNVs associated with MBOAT7(1 CNVs)
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19q13.42 27 Deletion-Duplication 45  /  126
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