MBOAT7
Homo sapiens
Gene Name: membrane bound O-acyltransferase domain containing 7
Aliases: BB1, LENG4, LPIAT, LRC4, MBOA7, OACT7, hMBOA-7
Chromosome No: 19
Chromosome Band: 19q13.42
Genetic Category: Rare single gene variant-Syndromic
Associated Syndrome(s): Autosomal recessive mental retardation-57 (MRT57)
Aliases: BB1, LENG4, LPIAT, LRC4, MBOA7, OACT7, hMBOA-7
Chromosome No: 19
Chromosome Band: 19q13.42
Genetic Category: Rare single gene variant-Syndromic
Associated Syndrome(s): Autosomal recessive mental retardation-57 (MRT57)
Summary Statistics:
ASD Reports: 20
Recent Reports: 1
Annotated variants: 49
Associated CNVs: 4
Evidence score: 2
ASD Reports: 20
Recent Reports: 1
Annotated variants: 49
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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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
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Feat...
ID
Epilepsy/seizures, ASD or autistic features
Support
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.
Autosomal recessive mental retardation-57 (MRT57)
Autistic features (hand stereotypies)
Support
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile
Autosomal recessive mental retardation-57 (MRT57)
DD, ID, epilepsy/seizures, ADHD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability
Autosomal recessive mental retardation-57 (MRT57)
DD, ID, epilepsy/seizures, autistic behavior, ster
Support
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
Autosomal recessive mental retardation-57 (MRT57)
DD, ID, epilepsy/seizures
Support
Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability
DD, ID, epilepsy/seizures
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
A Rare Cause of Globus Pallidus and Dentate Nucleus Hyperintensity in Childhood: MBOAT Mutation
Autosomal recessive mental retardation-57, DD, ID
Epilepsy/seizures
Support
Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.
Branched-chain ketoacid dehydrogenase kinase defic
Macrocephaly
Support
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
ID
Epilepsy/seizures, stereotypy
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Autosomal recessive mental retardation-57 (MRT57)
DD, autistic features
Support
Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families
Autosomal recessive mental retardation-57
DD, ID, epilepsy/seizures, ADHD, impaired social i
Recent Recommendation
Genome-wide detection of tandem DNA repeats that are expanded in autism
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN846R001a
frameshift_variant
c.34_53del
p.Pro12ThrfsTer27
Familial
Both parents
Extended multiplex
GEN846R002a
inframe_deletion
c.539_559del
p.Glu180_Ala186del
Familial
Both parents
Multiplex
GEN846R003a
inframe_deletion
c.539_559del
p.Glu180_Ala186del
Familial
Both parents
Multiplex
GEN846R004a
frameshift_variant
c.204del
p.Leu69CysfsTer8
Familial
Both parents
Multiplex
GEN846R006a
frameshift_variant
c.820_826del
p.Gly274ProfsTer47
Familial
Both parents
Extended multiplex
GEN846R008a
stop_gained
c.1278G>A
p.Trp426Ter
Familial
Both parents
Multiplex
GEN846R010a
stop_gained
c.259C>T
p.Arg87Ter
Familial
Both parents
Multiplex
GEN846R012a
frameshift_variant
c.680_690del
p.Leu227ProfsTer65
Familial
Both parents
Simplex
GEN846R013a
missense_variant
c.1126G>A
p.Glu376Lys
Familial
Both parents
Simplex
GEN846R014a
frameshift_variant
c.680_690del
p.Leu227ProfsTer65
Familial
Both parents
Simplex
GEN846R016a
frameshift_variant
c.782del
p.Lys261ArgfsTer18
Both parents
Unknown
GEN846R019a
inframe_deletion
c.758_778del
p.Glu253_Ala259del
Familial
Both parents
Extended multiplex
GEN846R020a
inframe_deletion
c.758_778del
p.Glu253_Ala259del
Familial
Both parents
Multiplex
GEN846R022a
frameshift_variant
c.1135del
p.Leu379TrpfsTer9
Familial
Both parents
Simplex
GEN846R033a
missense_variant
c.838_839delinsCA
p.Ala280His
Familial
Both parents
Simplex
GEN846R034a
inframe_deletion
c.758_778del
p.Glu253_Ala259del
Familial
Both parents
Multiplex
GEN846R035a
inframe_deletion
c.758_778del
p.Glu253_Ala259del
Familial
Both parents
Extended multiplex
GEN846R037a
frameshift_variant
p.Arg271ProfsTer25
Familial
Both parents
Multiplex
GEN846R039a
missense_variant
c.757G>A
p.Glu253Lys
Familial
Both parents
Multiplex
Common
No Common Variants Available
