| Review and update of mutations causing Waardenburg syndrome. | |
| | |
MedLine Citation:
|
PMID: 20127975 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the clinical classification of WS. Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling. |
| | |
Authors:
|
Véronique Pingault; Dorothée Ente; Florence Dastot-Le Moal; Michel Goossens; Sandrine Marlin; Nadège Bondurand |
Related Documents
:
|
12503095 - Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 7479945 - Mouse model for usher syndrome: linkage mapping suggests homology to usher type i repor... 16937455 - Mutations of the aaas gene in an indian family with allgrove's syndrome. 20153505 - Jak2 v617f mutation is uncommon in patients with the 3q21q26 syndrome. 1695555 - Clinical features of the yellow nail syndrome. 14741125 - The clinical expression and emergence of porcine circovirus 2. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
|
Title: Human mutation Volume: 31 ISSN: 1098-1004 ISO Abbreviation: Hum. Mutat. Publication Date: 2010 Apr |
Date Detail:
|
Created Date: 2010-04-01 Completed Date: 2010-07-30 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: United States |
Other Details:
|
Languages: eng Pagination: 391-406 Citation Subset: IM |
Copyright Information:
|
(c) 2010 Wiley-Liss, Inc. |
Affiliation:
|
INSERM Unité U955, Département de Génétique, Laboratoire de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France. veronique.pingault@inserm.fr |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Humans Mutation / genetics* Transcription Factors / genetics Waardenburg's Syndrome / classification, diagnosis, genetics*, pathology |
| Chemical | |
Reg. No./Substance:
|
0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Impact of next generation sequencing the 2009 Human Genome Variation Society Scientific Meeting.
Next Document: Biochemical and structural analysis of 14 mutant ADSL enzyme complexes and correlation to phenotypic...