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Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
Am J Hum Genet. 2007 Oct; 81(4):821-8.AJ

Abstract

Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases.

Authors+Show Affiliations

Unite de Genetique Medicale, Faculte de Medecine, Universite Saint-Joseph de Beyrouth, Paris, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

17847007

Citation

Adaimy, Lynn, et al. "Mutation in WNT10A Is Associated With an Autosomal Recessive Ectodermal Dysplasia: the Odonto-onycho-dermal Dysplasia." American Journal of Human Genetics, vol. 81, no. 4, 2007, pp. 821-8.
Adaimy L, Chouery E, Megarbane H, et al. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet. 2007;81(4):821-8.
Adaimy, L., Chouery, E., Megarbane, H., Mroueh, S., Delague, V., Nicolas, E., Belguith, H., de Mazancourt, P., & Megarbane, A. (2007). Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. American Journal of Human Genetics, 81(4), 821-8.
Adaimy L, et al. Mutation in WNT10A Is Associated With an Autosomal Recessive Ectodermal Dysplasia: the Odonto-onycho-dermal Dysplasia. Am J Hum Genet. 2007;81(4):821-8. PubMed PMID: 17847007.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. AU - Adaimy,Lynn, AU - Chouery,Eliane, AU - Megarbane,Hala, AU - Mroueh,Salman, AU - Delague,Valerie, AU - Nicolas,Elsa, AU - Belguith,Hanen, AU - de Mazancourt,Philippe, AU - Megarbane,Andre, Y1 - 2007/08/09/ PY - 2007/04/11/received PY - 2007/05/23/accepted PY - 2007/9/12/pubmed PY - 2007/10/31/medline PY - 2007/9/12/entrez SP - 821 EP - 8 JF - American journal of human genetics JO - Am J Hum Genet VL - 81 IS - 4 N2 - Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases. SN - 0002-9297 UR - https://wwww.unboundmedicine.com/medline/citation/17847007/Mutation_in_WNT10A_is_associated_with_an_autosomal_recessive_ectodermal_dysplasia:_the_odonto_onycho_dermal_dysplasia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63058-4 DB - PRIME DP - Unbound Medicine ER -