Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.
We report on three novel (IVS2+1G>A splice site, c.1066G>T, and c.1039G>T, and one previously reported (c.637G>A) WNT10A mutations in three patients affected with odonto-onycho-dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar keratoderma, and hyperhidrosis of palms and soles. The novel IVS+1G>A splice site mutation is predicted to cause significant protein alteration. The other novel mutations we found including c.1066G>T and c.1039G>T are predicted to cause p.Gly356Cys and p.Glu347X, respectively. Barrel-shaped mandibular incisors and severe hypodontia appear to be associated with homozygous or compound heterozygous mutations of WNT10A. The name "tricho-odonto-onycho-dermal dysplasia" is suggested to replace "odonto-onycho-dermal dysplasia" because hair anomalies including hypotrichosis and slow-growing hair have been reported in numerous reported patients with this syndrome.
Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Dentaland Clinic, Chiang Mai, Thailand; Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.
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Kantaputra
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Kaewgahya
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Jotikasthira
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Kantaputra
D000848:Anodontia / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D009154:Mutation; D009264:Nails, Malformed / Q000235:genetics; D051153:Wnt Proteins / Q000235:genetics*
C484142:WNT10A protein, human; D051153:Wnt Proteins
ectodermal dysplasia; freckle; hypodontia; hypotrichosis; microdontia; missing teeth; nail dysplasia; odonto-onycho-dermal dysplasia; peg-shaped lateral incisor; sparse hair