Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.
This review is concerned with the present state of phenotypical characterization of known genotypes of non-syndromal autosomal dominant hearing impairment. A brief outline of history and context of phenotyping and genotyping of hearing impairment is given with particular reference to the most recent developments in this field, followed by descriptions of DFNA1, DFNA2, DFNA5, DFNA6/14, DFNA8/12, DFNA9, DFNA 13, DFNA17 and DFNA21. Phenotyping those known genotypes may support the ongoing search for mutations in the corresponding gene and enhance genetic counselling. It is recommended that sufficient attention is given to a detailed description of the phenotype in each (newly) described hereditary hearing impairment disorder.
Bom
S J
SJ
Department of Otorhinolaryngology, University Hospital Nijmegen, Netherlands.
Kunst
H P
HP
Huygen
P L
PL
Cremers
F P
FP
Cremers
C W
CW
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D018450:Disease Progression; D015870:Gene Expression / Q000235:genetics; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans