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Review and update of mutations causing Waardenburg syndrome.
Hum Mutat. 2010 Apr; 31(4):391-406.HM

Abstract

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+Show Affiliations

INSERM Unité U955, Département de Génétique, Laboratoire de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France. veronique.pingault@inserm.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

20127975

Citation

Pingault, Véronique, et al. "Review and Update of Mutations Causing Waardenburg Syndrome." Human Mutation, vol. 31, no. 4, 2010, pp. 391-406.
Pingault V, Ente D, Dastot-Le Moal F, et al. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010;31(4):391-406.
Pingault, V., Ente, D., Dastot-Le Moal, F., Goossens, M., Marlin, S., & Bondurand, N. (2010). Review and update of mutations causing Waardenburg syndrome. Human Mutation, 31(4), 391-406. https://doi.org/10.1002/humu.21211
Pingault V, et al. Review and Update of Mutations Causing Waardenburg Syndrome. Hum Mutat. 2010;31(4):391-406. PubMed PMID: 20127975.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Review and update of mutations causing Waardenburg syndrome. AU - Pingault,Véronique, AU - Ente,Dorothée, AU - Dastot-Le Moal,Florence, AU - Goossens,Michel, AU - Marlin,Sandrine, AU - Bondurand,Nadège, PY - 2010/2/4/entrez PY - 2010/2/4/pubmed PY - 2010/7/31/medline SP - 391 EP - 406 JF - Human mutation JO - Hum Mutat VL - 31 IS - 4 N2 - 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. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/20127975/Review_and_update_of_mutations_causing_Waardenburg_syndrome_ L2 - https://doi.org/10.1002/humu.21211 DB - PRIME DP - Unbound Medicine ER -