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Article

Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.

Human molecular genetics - 1 Jun 2012

Zheng Qing Yin, Scarborough John D, Zheng Ye, Yu Heping, Choi Dongseok, Gillespie Peter G

Abstract excerpt

Inherited hearing loss in mice has contributed substantially to our understanding of inner-ear function. We identified a new allele at the Myo7a locus, Myo7a(sh1-8J); genomic characterization indicated that Myo7a(sh1-8J) arose from complex deletion encompassing exons 38-40 and 42-46. Homozygous mutant mice had no detectable auditory brainstem response, displayed highly disorganized hair-cell stereocilia and had...

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Source

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Identifiers

PMID: 22381527
DOI: 10.1093/hmg/dds084
PMCID: PMC3349429

Genes

MYO7A
USH1G
CDH23
PCDH15
USH1C

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.

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