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Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.
Am J Med Genet A. 2014 Apr; 164A(4):1041-8.AJ

Abstract

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.

Authors+Show Affiliations

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.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24458874

Citation

Kantaputra, P, et al. "Tricho-odonto-onycho-dermal Dysplasia and WNT10A Mutations." American Journal of Medical Genetics. Part A, vol. 164A, no. 4, 2014, pp. 1041-8.
Kantaputra P, Kaewgahya M, Jotikasthira D, et al. Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. Am J Med Genet A. 2014;164A(4):1041-8.
Kantaputra, P., Kaewgahya, M., Jotikasthira, D., & Kantaputra, W. (2014). Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. American Journal of Medical Genetics. Part A, 164A(4), 1041-8. https://doi.org/10.1002/ajmg.a.36388
Kantaputra P, et al. Tricho-odonto-onycho-dermal Dysplasia and WNT10A Mutations. Am J Med Genet A. 2014;164A(4):1041-8. PubMed PMID: 24458874.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. AU - Kantaputra,P, AU - Kaewgahya,M, AU - Jotikasthira,D, AU - Kantaputra,W, Y1 - 2014/01/23/ PY - 2013/07/16/received PY - 2013/11/08/revised PY - 2013/11/09/accepted PY - 2014/1/25/entrez PY - 2014/1/25/pubmed PY - 2014/12/17/medline KW - ectodermal dysplasia KW - freckle KW - hypodontia KW - hypotrichosis KW - microdontia KW - missing teeth KW - nail dysplasia KW - odonto-onycho-dermal dysplasia KW - peg-shaped lateral incisor KW - sparse hair SP - 1041 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 164A IS - 4 N2 - 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. SN - 1552-4833 UR - https://wwww.unboundmedicine.com/medline/citation/24458874/Tricho_odonto_onycho_dermal_dysplasia_and_WNT10A_mutations_ L2 - https://doi.org/10.1002/ajmg.a.36388 DB - PRIME DP - Unbound Medicine ER -