Aliases: NMMHC-IIB, NMMHCB
Chromosome No: 17
Chromosome Band: 17p13.1
Genetic Category: Rare single gene variant-
ASD Reports: 8
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 7
Evidence score: 3
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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.
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