Phenotype and genotype in females with POU3F4 mutations.
Clin Genet
; 76(6): 558-63, 2009 Dec.
Article
in En
| MEDLINE
| ID: mdl-19930154
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
POU Domain Factors
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Middle aged
Language:
En
Journal:
Clin Genet
Year:
2009
Document type:
Article