[Unilateral sensineural deafness associated with mutations in the PAX3-gene in Waardenburg syndrome type I].
Waardenburg syndrome (WS) type 1 occurs due to a mutation in the PAX3-gene on the long arm of chromosome 2. It is an autosomal dominant mutation with highly variable expression and high penetrance. Symptoms include the absence of melanocytes in the skin, hair, eyes and cochlea due to an early developmental disturbance in melancoytes from the neural crest. An inner ear disturbance is characteristic. Here we present a 4 year old girl with unilateral hearing loss, dystopia canthorum and partial albinism. Screening the entire PAX 3 gene revealed C64A und T164A mutations in exon I und II, both being missense mutations. Neither mutation has not been reported previously.
Ptok
M
M
Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover. ptok.martin@mh-hannover.de
Morlot
S
S
D002675:Child, Preschool; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D046088:Hearing Loss, Unilateral / Q000235:genetics*; D006801:Humans; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*
D005819:Genetic Markers; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors