Aliases: DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
Chromosome No: 11
Chromosome Band: 11q13.5
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 3
Evidence score: 2
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Relevance to Autism
Two de novo missense variants in the MYO7A gene, including a missense variant with a CADD score > 30, were identified in Korean ASD probands in Kim et al., 2024; this gene was subsequently classified as an ASD candidate gene in males following a combined TADA analysis consisting of the Korean ASD cohort described in Kim et al., 2024 in addition to the Simons Simplex Collection and the SPARK cohort. Additional de novo missense variants in MYO7A, including a missense variant with a CADD score > 30, have been identified in ASD probands from the Autism Sequencing Consortium, the Simons Simplex Collection, the SPARK cohort, and the MSSNG cohort (Satterstrom et al., 2020; Zhou et al., 2022; Trost et al., 2022).
Molecular Function
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration.
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