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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Novel and recurrent non-truncating mutations of the MITF basic domain: Genotypic and phenotypic variations in Waardenburg and Tietz syndromes
European Journal of Human Genetics, Volume 20, No. 5, Year 2012
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Description
The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss. Twelve patients with new or recurrent non-truncating mutations of the MITF basic domain from six families were enrolled in this study. We observed a wide range of phenotypes and some unexpected features. All the patients had blue irides and pigmentation abnormalities that ranged from diffuse hypopigmentation to Waardenburg-like patches. In addition, they showed congenital complete hearing loss, diffuse hypopigmentation of the skin, freckling and ocular abnormalities, more frequently than patients with MITF mutations outside the basic domain. In conclusion, the non-truncating mutations of the basic domain do not always lead to Tietz syndrome but rather to a large range of phenotypes. Sun-exposed freckles are interestingly observed more frequently in Asian populations. This variability argues for the possible interaction with modifier loci. © 2012 Macmillan Publishers Limited All rights reserved.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3330215/bin/ejhg2011234x1.doc
https://efashare.b-cdn.net/share/pmc/articles/PMC3330215/bin/ejhg2011234x2.doc
Authors & Co-Authors
Léger, Sandy
France, Rouen
Chu Rouen Normandie
Balguerie, Xavier
France, Rouen
Chu Rouen Normandie
Goldenberg, Alice
France, Rouen
Hopital Charles Nicolle
Drouin-Garraud, Valérie
France, Rouen
Hopital Charles Nicolle
Cabot, Annick
France, Rouen
Hopital Charles Nicolle
Amstutz-Montadert, Isabelle
France, Rouen
Hopital Charles Nicolle
Young, Paul
France, Rouen
Cabinet Privé de Dermatologie
Joly, Pascal
France, Rouen
Chu Rouen Normandie
Bodereau, Virginie
France, Creteil
Hôpital Henri Mondor
Holder-Espinasse, Muriel H.
France, Lille
Chu Lille
Jamieson, Robyn V.
Australia, Sydney
The University of Sydney
Krause, Amanda
South Africa, Johannesburg
School of Pathology
Chen, Hongsheng
China, Changsha
Xiangya Hospital of Central-south University
Baumann, Clarisse
France, Paris
Hôpital Robert-debré Ap-hp
Nunes, Luis
Portugal, Lisbon
Hospital de Dona Estefânia
Portugal, Lisbon
Faculdade de Ciências, Universidade de Lisboa
Dollfus, Hélène J.
France, Strasbourg
Hopital de Hautepierre
Goossens, Michel J.
France, Creteil
Hôpital Henri Mondor
France, Creteil
Institut Mondor de Recherche Biomédicale
France, Creteil
Faculté de Santé
Pingault, Véronique
France, Creteil
Hôpital Henri Mondor
France, Creteil
Institut Mondor de Recherche Biomédicale
France, Creteil
Faculté de Santé
Statistics
Citations: 39
Authors: 18
Affiliations: 14
Identifiers
Doi:
10.1038/ejhg.2011.234
ISSN:
10184813
e-ISSN:
14765438
Research Areas
Disability