Tags

Type your tag names separated by a space and hit enter

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.
Eur J Hum Genet. 2009 Dec; 17(12):1600-5.EJ

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+Show Affiliations

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

19471313

Citation

Nawaz, Sadia, et al. "WNT10A Missense Mutation Associated With a Complete Odonto-onycho-dermal Dysplasia Syndrome." European Journal of Human Genetics : EJHG, vol. 17, no. 12, 2009, pp. 1600-5.
Nawaz S, Klar J, Wajid M, et al. WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. Eur J Hum Genet. 2009;17(12):1600-5.
Nawaz, S., Klar, J., Wajid, M., Aslam, M., Tariq, M., Schuster, J., Baig, S. M., & Dahl, N. (2009). WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. European Journal of Human Genetics : EJHG, 17(12), 1600-5. https://doi.org/10.1038/ejhg.2009.81
Nawaz S, et al. WNT10A Missense Mutation Associated With a Complete Odonto-onycho-dermal Dysplasia Syndrome. Eur J Hum Genet. 2009;17(12):1600-5. PubMed PMID: 19471313.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. AU - Nawaz,Sadia, AU - Klar,Joakim, AU - Wajid,Muhammad, AU - Aslam,Muhammad, AU - Tariq,Muhammad, AU - Schuster,Jens, AU - Baig,Shahid Mahmood, AU - Dahl,Niklas, Y1 - 2009/05/27/ PY - 2009/5/28/entrez PY - 2009/5/28/pubmed PY - 2010/1/21/medline SP - 1600 EP - 5 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 17 IS - 12 N2 - 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. SN - 1476-5438 UR - https://wwww.unboundmedicine.com/medline/citation/19471313/WNT10A_missense_mutation_associated_with_a_complete_odonto_onycho_dermal_dysplasia_syndrome_ L2 - https://doi.org/10.1038/ejhg.2009.81 DB - PRIME DP - Unbound Medicine ER -