Conflict of interest: All authors declare no conflict of interest.
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations
Version of Record online: 23 JAN 2014
© 2014 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 164, Issue 4, pages 1041–1048, April 2014
How to Cite
2014. Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. Am J Med Genet Part A 321A:1041–1048., , , .
- Issue online: 17 MAR 2014
- Version of Record online: 23 JAN 2014
- Manuscript Accepted: 9 NOV 2013
- Manuscript Revised: 8 NOV 2013
- Manuscript Received: 16 JUL 2013
- Thailand Research Fund (TRF)
- Dental Association of Thailand
- Faculty of Dentistry, Chiang Mai University
- ectodermal dysplasia;
- missing teeth;
- odonto-onycho-dermal dysplasia;
- nail dysplasia;
- peg-shaped lateral incisor;
- sparse hair;
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. © 2014 Wiley Periodicals, Inc.