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Article

In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Sept 2008

Kallman Jeremy C, Phillips James O, Bramhall Naomi F, Kelly John P, Street Valerie A

Abstract excerpt

OBJECTIVES: To evaluate the auditory, vestibular, and retinal characteristics of a large American DFNA11 pedigree with autosomal dominant progressive sensorineural hearing loss that first impacts the low- and mid-frequency auditory range. The pedigree (referred to as the HL2 family) segregates a myosin VIIA (MYO7A) mutation in exon 17 at DNA residue G2164C (MYO7A) that seems to be influenced by a genetic modifier...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 18667942
DOI: 10.1097/MAO.0b013e3181825651
PMCID: PMC2648351

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier.PMID 18667942Read ↗

A DNA variant within the MYO7A promoter regulates YY1 transcription factor binding and gene expression serving as a potential dominant DFNA11 auditory genetic modifier.Semantic proximity Read ↗

Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.Semantic proximity Read ↗

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.Semantic proximity Read ↗

Clinical Details of Low-Frequency Hearing Loss Observed in Autosomal Dominant MYO7A-Associated Hearing Loss Patients.Semantic proximity Read ↗

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A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findingsSemantic proximity Read ↗

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutationSemantic proximity Read ↗

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Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).Semantic proximity Read ↗

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