ArticlePloS one2013
Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- Molecular diagnosis of non-syndromic hearing loss in seven Iranian families using whole-exome sequencing.BMC medical genomics · 2026Article
- Select autosomal dominant DFNA11 deafness variants activate Myo7A targeting in epithelial cells.Journal of cell science · 2025Article
- The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.Scientific reports · 2024Article
- Autosomal dominant non-syndromic hearing loss caused by a novel mutation inWorld journal of clinical cases · 2023Article
- Clinical Heterogeneity Associated withBiomedicines · 2022Article
- Immunohistochemistry localises myosin-7a to cochlear efferent boutons.Wellcome open research · 2022Article
- Genetics and the Individualized Therapy of Vestibular Disorders.Frontiers in neurology · 2021Review
- Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss.Neural plasticity · 2018Article
- Screening ofIranian journal of public health · 2017Article
- Genetics of vestibular disorders: pathophysiological insights.Journal of neurology · 2016Review
- Usher protein functions in hair cells and photoreceptors.The international journal of biochemistry & cell biology · 2014Review
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The MYO7A encodes a protein classified as an unconventional myosin. Here, we present a family with non-syndromic autosomal dominant hearing impairment that clinically resembles other previously published DFNA11 families. Affected members of the family present with an ascending audiogram affecting low and middle frequencies at young ages and then affecting all frequencies with increasing age. Genome-wide linkage analysis using Illumina Cyto-12 Chip mapped the disease locus to the DFNA11 interval in the family. A c.2003G→A (p.R668H) mutation of the MYO7A, is heterozygous in all affected family members and absent in 100 healthy individuals. Arg668His is located in a region of the myosin VIIA motor domain that is highly conserved among different species. Molecular modeling predicts that the conserved R668 residue plays important structural role in linking different lobes of motor domain together. In the actin-activated ATPase activity assay, the rate of NADH oxidation was higher in the wild-type myosin VIIA, indicating that the ATPase activity in the p.R668H mutant myosin VIIA was significantly destroyed.
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