[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)].
DFNA6/-14 is a nonsyndromic, autosomal dominant form of hearing impairment that is characterised by low-frequency sensorineural hearing loss, which in some cases is progressive. It is the only known form of dominantly inherited low-frequency hearing impairment in the Netherlands. It is caused by heterozygous non-inactivating mutations in the WFSI gene, which are also present in the Wolfram or DIDMOAD syndrome.
Pennings
R J
RJ
Universitair Medisch Centrum St Radboud, afd. Keel-, Neus- en Oorheelkunde, Postbus 9101, 6500 HB Nijmegen. r.pennings@kno.umcn.nl
Cryns
K
K
Huygen
P L
PL
van Camp
G
G
Cremers
C W
CW
D001299:Audiometry; D018450:Disease Progression; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D005810:Multigene Family; D009154:Mutation; D010375:Pedigree
D008565:Membrane Proteins; C114987:wolframin protein