ArticleHuman genetics2004
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 56 citations in OpenAlex.
- Dominant effect of a single amino acid mutation in the motor domain of myosin VI on hearing in mice.Experimental animals · 2025Article
- Select autosomal dominant DFNA11 deafness variants activate Myo7A targeting in epithelial cells.Journal of cell science · 2025Article
- The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.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
- [Identifications of the novel mutants onLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2022Article
- Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.Scientific reports · 2021Article
- Article
- Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique.Disease markers · 2018Article
- Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.Molecular biology reports · 2014Article
- Article
- Using the phenome and genome to improve genetic diagnosis for deafness.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2012Article
- Actin in hair cells and hearing loss.Hearing research · 2012Review
- Article
- A DNA variant within the MYO7A promoter regulates YY1 transcription factor binding and gene expression serving as a potential dominant DFNA11 auditory genetic modifier.The Journal of biological chemistry · 2011Article
- Cargo recognition mechanism of myosin X revealed by the structure of its tail MyTH4-FERM tandem in complex with the DCC P3 domain.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.Clinical genetics · 2010Article
- Genetics and pathological mechanisms of Usher syndrome.Journal of human genetics · 2010Review
- Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.European journal of human genetics : EJHG · 2009Article
- The genetic bases for non-syndromic hearing loss among Chinese.Journal of human genetics · 2009Review
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11). Here, we present a family with non-syndromic autosomal dominant hearing impairment that clinically resembles the previously published DFNA11 family. The affected family members show a flat audiogram at young ages and only modest progression, most clearly at the high frequencies. In addition, they suffer from minor vestibular symptoms. Linkage analysis yielded a maximum two-point lodscore of 3.43 for marker D11S937 located within 1 cM of the myosin VIIA gene. The myosin VIIA gene was sequenced and 11 nucleotide variations were found. Ten nucleotide changes represent benign intronic variants, silent exon mutations or non-pathologic amino acid substitutions. One variant, a c.1373A-->T transversion that is heterozygously present in all affected family members and absent in 300 healthy individuals, is predicted to result in an Asn458Ile amino acid substitution. Asn458 is located in a region of the myosin VIIA motor domain that is highly conserved in different classes of myosins and in myosins of different species. To evaluate whether the Asn458Ile mutation was indeed responsible for the hearing impairment, a molecular model of myosin VIIA was built based on the known structure of the myosin II heavy chain from Dictyostelium discoideum. In this model, conformational changes in the protein caused by the amino acid substitution Asn458Ile are predicted to disrupt ATP/ADP binding and impair the myosin power-stroke, which would have a severe effect on the function of the myosin VIIA protein.
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