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Phenotype and genotype in females with POU3F4 mutations
Author(s) -
Marlin S,
Moizard MP,
David A,
Chaissang N,
Raynaud M,
Jonard L,
Feldmann D,
Loundon N,
Denoyelle F,
Toutain A
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01215.x
Subject(s) - phenotype , hearing loss , inner ear , genotype phenotype distinction , genotype , medicine , genetics , stapes , biology , gene , audiology , middle ear , anatomy
X‐linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non‐syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late‐onset hearing loss is found in three patients. Only one has an inner ear malformation. No genotype/phenotype correlation is identified.