title: Review and update of mutations causing Waardenburg syndrome.
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.affiliation: INSERM Unité U955, Département de Génétique, Laboratoire de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France. veronique.pingault@inserm.fr
authors.forename: Véronique
authors.initials: V
authors.lastname: Pingault
authors.forename: Dorothée
authors.initials: D
authors.lastname: Ente
authors.forename: Florence
authors.initials: F
authors.lastname: Dastot-Le Moal
authors.forename: Michel
authors.initials: M
authors.lastname: Goossens
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marlin
authors.forename: Nadège
authors.initials: N
authors.lastname: Bondurand
mesh_terms: D006801:Humans; D009154:Mutation / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014849:Waardenburg Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D014157:Transcription Factors