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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia
American Journal of Human Genetics, Volume 81, No. 4, Year 2007
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Description
Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ∼9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G→T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases. © 2007 by The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Adaimy, Lynn
France, Beirut
Université Saint-joseph
Chouery, Éliane
France, Beirut
Université Saint-joseph
Meǵarbané, Hala
Lebanon, Beirut
American University of Beirut
Mroueh, Salman
Lebanon, Beirut
American University of Beirut
Delague, Valeŕie
France, Paris
Inserm
Nicolas, Elsa
France, Beirut
Université Saint-joseph
Belguith, Hanen
France, Beirut
Université Saint-joseph
de Mazancourt, Philippe
France, Garches
Hopital Raymond Poincare
Megarbane, Andre
France, Beirut
Université Saint-joseph
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Statistics
Citations: 234
Authors: 9
Affiliations: 5
Identifiers
Doi:
10.1086/520064
ISSN:
00029297
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health