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Article

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

Nature genetics - 1 Jun 1997

Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C

Abstract excerpt

Hereditary non-syndromic profound deafness affects about 1 in 2000 children prior to language acquisition. In 80% of the cases, the mode of transmission is autosomal recessive. The number of genes involved in these recessive forms of isolated deafness (DFNB genes) has been estimated to between 30 and 100. So far, ten DFNB genes have been mapped to human chromosomes, one of which has been isolated. By linkage...

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Source

Identifiers

PMID: 9171833
DOI: 10.1038/ng0697-191

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Research trail→

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The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.PMID 9171833Read ↗

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Defective myosin VIIA gene responsible for Usher syndrome type 1B.Semantic proximity Read ↗

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Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.Semantic proximity Read ↗

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.Semantic proximity Read ↗

The usher syndromes.Semantic proximity Read ↗

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.Semantic proximity Read ↗

Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.Semantic proximity Read ↗

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.Semantic proximity Read ↗

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.Semantic proximity Read ↗

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.Semantic proximity Read ↗

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.Semantic proximity Read ↗

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