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WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.


ABSTRACT: 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.

SUBMITTER: Nawaz S 

PROVIDER: S-EPMC2987016 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature

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WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Nawaz Sadia S   Klar Joakim J   Wajid Muhammad M   Aslam Muhammad M   Tariq Muhammad M   Schuster Jens J   Baig Shahid Mahmood SM   Dahl Niklas N  

European journal of human genetics : EJHG 20090527 12


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 hyperhydros  ...[more]

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