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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
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
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
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
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
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 
 GEN846R005a 
 splice_site_variant 
 c.635+1G>C 
  
 Familial 
 Both parents 
 Multiplex 
 GEN846R006a 
 frameshift_variant 
 c.820_826del 
 p.Gly274ProfsTer47 
 Familial 
 Both parents 
 Extended multiplex 
 GEN846R007 
 synonymous_variant 
 c.339G>A 
 p.Val113= 
 De novo 
 NA 
  
 GEN846R008a 
 stop_gained 
 c.1278G>A 
 p.Trp426Ter 
 Familial 
 Both parents 
 Multiplex 
 GEN846R009a 
 copy_number_loss 
  
  
 Familial 
 Both parents 
 Multiplex 
 GEN846R010a 
 stop_gained 
 c.259C>T 
 p.Arg87Ter 
 Familial 
 Both parents 
 Multiplex 
 GEN846R011a 
 copy_number_loss 
  
  
 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 
 GEN846R015a 
 missense_variant 
 c.604G>A 
 p.Gly202Ser 
  
 Both parents 
 Unknown 
 GEN846R016a 
 frameshift_variant 
 c.782del 
 p.Lys261ArgfsTer18 
  
 Both parents 
 Unknown 
 GEN846R017a 
 splice_site_variant 
 c.8552A>G 
 p.? 
 Familial 
 Both parents 
 Simplex 
 GEN846R018 
 splice_site_variant 
 c.-16-167A>C 
  
 Familial 
 Maternal 
 Multiplex 
 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 
 GEN846R021a 
 stop_gained 
 c.1062C>A 
 p.Tyr354Ter 
 Familial 
 Both parents 
 Multiplex 
 GEN846R022a 
 frameshift_variant 
 c.1135del 
 p.Leu379TrpfsTer9 
 Familial 
 Both parents 
 Simplex 
 GEN846R023 
 microsatellite 
  
  
 Unknown 
  
 Simplex 
 GEN846R024 
 microsatellite 
  
  
 Unknown 
  
 Unknown 
 GEN846R025 
 microsatellite 
  
  
 Unknown 
  
 Multiplex 
 GEN846R026 
 microsatellite 
  
  
 Unknown 
  
 Multiplex 
 GEN846R027 
 microsatellite 
  
  
 Unknown 
  
 Unknown 
 GEN846R028 
 microsatellite 
  
  
 Unknown 
  
 Simplex 
 GEN846R029 
 microsatellite 
  
  
 Unknown 
  
 Simplex 
 GEN846R030 
 microsatellite 
  
  
 Unknown 
  
 Simplex 
 GEN846R031 
 microsatellite 
  
  
 Unknown 
  
 Simplex 
 GEN846R032 
 microsatellite 
  
  
 Unknown 
  
 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 
 GEN846R036 
 stop_gained 
 c.477C>G 
 p.Tyr159Ter 
 Familial 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Duplication
 1
 
19
Duplication
 1
 
19
Duplication
 5
 

Model Summary

MBOAT7 null mice show postnatal lethality, atrophy of the cerebral cortex and hippocampus, disordered cortical lamination, decreased neuronal migration in the cortex at E18.5, no MBOAT7 enzymatic activity, and decrease in arachidonic acid content in phosphatidylinositol (PI) and PI phosphates.

References

Type
Title
Author, Year
Primary
LPIAT1 regulates arachidonic acid content in phosphatidylinositol and is required for cortical lamination in mice

M_MBOAT7_1_KO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous
Mutation: A targeting vector substituted a neomycin-resistant gene for exons 2??4 of the mboat7 gene, deleting the initiation codon.
Allele Type: Knockout
Strain of Origin: NA
Genetic Background: C57BL/6 
ES Cell Line: NA
Mutant ES Cell Line: E14K murine embryonic stem (ES) cells 
Model Source: 23097495

M_MBOAT7_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neocortex morphology: size1
Decreased
Description: Decrease size of cerebral cortex
 Histology
 E18.5
Hippocampal morphology1
Decreased
Description: Decreased size of hippocampus; disarranged laminar structure of the hippocampus
 Histology
 E18.5
Neuronal specification1
Abnormal
Description: Tbr1 positive cortical neurons are scattered throughout the cortical plate; most brn1-positive neurons stacked in the intermediate zone instead of cp; dispersed palisade-like neuronal processes in cx;
Exp Paradigm: tbr1, brn1, map2
 Immunohistochemistry
 E18.5
Cortical lamination1
Decreased
Description: Disarranged laminar structure of the cerebral cortex
 Histology
 E18.5
Neuronal migration1
Decreased
Description: Decreased proportion of cells in the superficial cortex
 Immunohistochemistry
 E18.5
Anatomical projections and connectivity1
Decreased
Description: Decreased number of neurites; decreased length of neurites
 Immunohistochemistry
 P0
Size/growth1
Decreased
Description: Decrease in body weight
 Body weight measurement
 P0, 1 week 2 weeks
Targeted expression1
Decreased
Description: Absence of mboat7 protein in tissues (brain, liver, kidney, testis, lung)
 Western blot
 2 weeks
Targeted expression1
Decreased
Description: Absence of mboat7 protein in brain (neocortex, hippocampus, olfactory bulb, cerebellum)
 Immunohistochemistry
 E18.5
Enzyme activity1
Decreased
Description: Decreased acyltransferase activity in brain, liver, kidney, testis with substrate aa-coa but not other lysophosphatidic substrates
 Enzyme assay
 2 weeks
Mortality/lethality: embryonic1
 No change
 Genotypic ratio of progeny from heterozygous parents
 E16.5
Metabolite levels: Neurometabolites1
 No change
 Liquid chromatography-mass spectrometry (LC-MS)
 Not reported
Brain size1
 No change
 Gross necroscopy
 E18.5
Cell proliferation: neural precursors1
 No change
 Immunohistochemistry
 E15.5
Neuronal differentiation1
 No change
 Immunohistochemistry
 E14.5
 Not Reported:

 

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