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PMID: 9279758 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Waardenburg syndrome.

Journal of medical genetics ·Vol. 34 ·No. 8 ·1997-08-00 ·Pages 656-65

Read AP, Newton VE

Abstract

Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives.

MeSH Terms
Endothelin-3/genetics Eye Color Face/pathology Female Homozygote Humans Incidence Male Prevalence Receptors, Endothelin/genetics Waardenburg Syndrome/epidemiology,genetics,pathology
Chemicals
Endothelin-3 Receptors, Endothelin
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Read A P
Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
Newton V E
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.34.8.656
Published
1997-08-00
Pages
656-65
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1051028
Subset
IM
Grants
Wellcome Trust · United Kingdom
External Links
PubMed source DOI: 10.1136/jmg.34.8.656 PMC Full Text View journal details
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