Waardenburg Syndrome

Julie M. Schultz

doi:10.1055/s-2006-947284

Seminars in Hearing, Table of Contents

Semin Hear 2006; 27(3): 171-181
DOI: 10.1055/s-2006-947284

Published in 2006 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Waardenburg Syndrome

Julie M. Schultz¹

¹NRC Senior Research Associate, Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland

Abstract

ABSTRACT

Auditory-pigmentary disorders result from the absence of melanocytes in the cochlea, skin, hair, and eyes. Waardenburg syndrome (WS) is one such autosomal dominant disorder that is characterized by congenital sensorineural hearing loss and pigmentation anomalies of neural crest-derived tissues. The clinical features of WS, including hearing loss, are not fully penetrant and interfamilial and intrafamilial variation in the phenotype is a common observation. A wide variety of unique mutations in at least six genes contribute to the phenotype in WS patients; however, the type and location of mutations have not been strongly correlated with the different clinical features that are expressed. Bilateral, congenital deafness is the most serious clinical feature expressed in the common types of WS and has been successfully habilitated through hearing aids or cochlear implants.

KEYWORDS

Waardenburg syndrome - hereditary deafness - pigmentation anomalies - dystopia canthorum - PAX3

Full Text

References

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Julie M Schultz

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