Human Gene Module / Chromosome 17 / MYH10

MYH10myosin heavy chain 10

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 5
Rare Variants / Common Variants
5 / 0
Aliases
MYH10, NMMHC-IIB,  NMMHCB
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
17p13.1
Associated Disorders
-
Relevance to Autism

Three rare de novo variants in the MYH10 gene (one loss-of-function, two missense variants predicted to be damaging) have been identified in ASD probands from the Simons Simplex Collection (Willsey et al., 2013; Iossifov et al., 2014). Functional analysis of the ASD-associated p.Tyr265Cys variant in transfected primary rat hippocampal neurons in Hlushchenko et al., 2018 (PMID 30123108) demonstrated that this variant reduced the size of inhibitory synapses and reduced the density of inhibitory synapses in spines of transfected hippocampal neurons compared to wild-type protein, with no other effects on localization, dendritic spine density or morphology. De novo variants in this gene have also been observed in individuals presenting with developmental delay, microcephaly, and cerebral atrophy (Tuzovic et al., 2013; Hamdan et al., 2014).

Molecular Function

This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart.

Reports related to MYH10 (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Willsey AJ , et al. (2013) Yes -
2 Support A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice. Tuzovic L , et al. (2013) No -
3 Support De novo mutations in moderate or severe intellectual disability. Hamdan FF , et al. (2014) No -
4 Support The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
5 Recent Recommendation ASD-Associated De Novo Mutations in Five Actin Regulators Show Both Shared and Distinct Defects in Dendritic Spines and Inhibitory Synapses in Cult... Hlushchenko I , et al. (2018) No -
Rare Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
GA>G 755-! frameshift_variant De novo - Simplex 24267886 Willsey AJ , et al. (2013)
c.2722G>T p.Glu908Ter stop_gained De novo - Simplex 25003005 Tuzovic L , et al. (2013)
c.838C>T p.Arg280Cys missense_variant De novo - Simplex 25356899 Hamdan FF , et al. (2014)
c.794A>G p.Tyr265Cys missense_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.242C>T p.Pro81Leu missense_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
Common Variants  

No common variants reported.

CNVs associated with MYH10(1 CNVs)
17p13.1 26 Deletion-Duplication 40  /  153
Submit New Gene

Report an Error