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Relevance to Autism

A de novo loss-of-function (LoF) variant and two de novo missense variants (one of which was not present in external databases and was predicted in silico to be damaging) were identified in the MYO1E gene in ASD probands from the Simons Simplex Collection (Iossifov et al., 2014). TADA-Denovo analysis using a combined dataset of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium, as well as a novel cohort of 262 Japanese ASD trios, in Takata et al., 2018 identified MYO1E as a gene significantly enriched in damaging de novo mutations in ASD cases (pBH < 0.05).

Molecular Function

This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Recent Recommendation
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1001R001 
 stop_gained 
 c.3163C>T 
 p.Gln1055Ter 
 De novo 
 NA 
 Simplex 
 GEN1001R002 
 missense_variant 
 c.751G>A 
 p.Asp251Asn 
 De novo 
 NA 
 Simplex 
 GEN1001R003 
 missense_variant 
 c.1109C>G 
 p.Ser370Cys 
 De novo 
 NA 
 Simplex 
 GEN1001R004 
 missense_variant 
 c.2383G>A 
 p.Gly795Arg 
 Unknown 
 Not maternal 
 Simplex 
 GEN1001R005 
 splice_site_variant 
 c.511-2A>G 
  
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion
 1
 
15
Duplication
 1
 
15
Deletion-Duplication
 18
 
15
Deletion
 6
 
15
Deletion
 1
 

No Animal Model Data Available

 

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