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WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.ORCID iD: 0000-0003-4185-7409
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2009 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 17, no 12, 1600-1605 p.Article in journal (Refereed) Published
Abstract [en]

Wnt signalling is one of a few pathways that are crucial for controlling genetic programs during embryonic development as well as in adult tissues. WNT10A is expressed in the skin and epidermis and it has shown to be critical for the development of ectodermal appendages. A nonsense mutation in WNT10A was recently identified in odonto-onycho-dermal dysplasia (OODD; MIM 257980), a rare syndrome characterised by severe hypodontia, nail dystrophy, smooth tongue, dry skin, keratoderma and hyperhydrosis of palms and soles. We identified a large consanguineous Pakistani pedigree comprising six individuals affected by a complete OODD syndrome. Autozygosity mapping using SNP array analysis showed that the affected individuals are homozygous for the WNT10A gene region. Subsequent mutation screening showed a homozygous c.392C>T transition in exon 3 of WNT10A, which predicts a p.A131V substitution in a conserved alpha-helix domain. We report here on the first inherited missense mutation in WNT10A with associated ectodermal features.

Place, publisher, year, edition, pages
2009. Vol. 17, no 12, 1600-1605 p.
Keyword [en]
WNT10A, missense mutation, OODD syndrome, ectodermal dysplasia
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-119463DOI: 10.1038/ejhg.2009.81ISI: 000271911700011PubMedID: 19471313OAI: oai:DiVA.org:uu-119463DiVA: diva2:300275
Available from: 2010-02-25 Created: 2010-02-25 Last updated: 2016-02-29Bibliographically approved

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Klar, Joakim
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