title: 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.
authors.affiliation: Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan.
authors.forename: Sadia
authors.initials: S
authors.lastname: Nawaz
authors.forename: Joakim
authors.initials: J
authors.lastname: Klar
authors.forename: Muhammad
authors.initials: M
authors.lastname: Wajid
authors.forename: Muhammad
authors.initials: M
authors.lastname: Aslam
authors.forename: Muhammad
authors.initials: M
authors.lastname: Tariq
authors.forename: Jens
authors.initials: J
authors.lastname: Schuster
authors.forename: Shahid Mahmood
authors.initials: SM
authors.lastname: Baig
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017433:Protein Structure, Secondary; D013577:Syndrome; D051153:Wnt Proteins / Q000737:chemistry / Q000235:genetics*
chemical_list: C484142:WNT10A protein, human; D051153:Wnt Proteins