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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular study of three lebanese and syrian patients with waardenburg syndrome and report of novel mutations in the EDNRB and MITF genes
Molecular Syndromology, Volume 1, No. 4, Year 2011
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Description
Waardenburg syndrome (WS) is a genetic disorder characterized primarily by depigmentation of the skin and hair, heterochromia of the irides, sensorineural deafness, and sometimes by dystopia canthorum, and Hirschsprung disease. WS presents a large clinical and genetic heterogeneity. Four different types have been individualized and linked to 5 different genes. We report 2 cases of WS type II and 1 case of WS type IV from Lebanon and Syria. The genetic studies revealed 2 novel mutations in the MITF gene of the WS type II cases and 1 novel homozygous mutation in the EDNRB gene of the WS type IV case. This is the first molecular study of patients from the Arab world. Additional cases will enable a more detailed description of the clinical spectrum of Waardenburg syndrome in this region. © 2011 S. Karger AG, Basel.
Authors & Co-Authors
Haddad, Nour Maya N.
Lebanon, Beirut
Université Saint-joseph de Beyrouth
France, Paris
Fondation Adolphe de Rothschild
Ente, Dorothée
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Chouery, Éliane
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Jalkh, Nadine
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Mehawej, Cybel
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Khoueir, Ziad
Lebanon, Beirut
Hôtel-dieu de France Hospital
Pingault, Véronique
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Creteil
Faculté de Santé
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Statistics
Citations: 20
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1159/000322891
ISSN:
16618769
e-ISSN:
16618777
Research Areas
Cancer
Genetics And Genomics