MYO1A
Homo sapiens
Gene Name: myosin IA
Aliases: BBMI, DFNA48, MIHC, MYHL
Chromosome No: 12
Chromosome Band: 12q13.3
Genetic Category: Rare Single Gene variant-
Aliases: BBMI, DFNA48, MIHC, MYHL
Chromosome No: 12
Chromosome Band: 12q13.3
Genetic Category: Rare Single Gene variant-
Summary Statistics:
ASD Reports: 12
Recent Reports: 1
Annotated variants: 22
Associated CNVs: 6
Evidence score: 2
ASD Reports: 12
Recent Reports: 1
Annotated variants: 22
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the MYO1A gene have been identified with autism (O'Roak et al., 2011) as well as with deafness (Donaudy et al., 2003).
Molecular Function
Involved in directing the movement of organelles along actin filaments (muscle cells)
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Highly Cited
Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a.
Highly Cited
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
Recent Recommendation
Molecular model of the microvillar cytoskeleton and organization of the brush border.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN165R010
missense_variant
c.2021G>A
p.Gly674Asp
Familial
Extended multiplex (at least one pair of ASD affec
GEN165R011
missense_variant
c.11T>A
p.Leu4Gln
De novo
Unknown
GEN165R012
missense_variant
c.4C>T
p.Pro2Ser
De novo
Unknown
GEN165R013
frameshift_variant
c.3102del
p.Ser1035ValfsTer6
Familial
Maternal
Multiplex
GEN165R014
frameshift_variant
c.953del
p.Cys318SerfsTer16
Familial
Paternal
Multiplex
GEN165R019
frameshift_variant
c.3098del
p.Lys1033ArgfsTer8
Familial
Paternal
Multiplex
Common
No Common Variants Available