Review and update of mutations causing Waardenburg syndrome.

Véronique Pingault (1) , Dorothée Ente (2) , Florence Dastot-Le Moal (2, 3) , Michel Goossens (1) , Sandrine Marlin (4) , Nadège Bondurand (5)

1 INSERM U955, équipe 11
2 Service de Biochimie [Mondor]
3 IMRB - Institut Mondor de Recherche Biomédicale
4 CHU Trousseau [APHP]
5 INSERM U955, équipe 11

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.

Domaines: Biochimie, Biologie Moléculaire

Véronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, Michel Goossens, Sandrine Marlin, et al.. Review and update of mutations causing Waardenburg syndrome.. Human Mutation, 2010, 31 (4), pp.391-406. ⟨10.1002/humu.21211⟩. ⟨inserm-00483195⟩