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Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.
Australas J Dermatol. 2011 Aug; 52(3):224-6.AJ

Abstract

Schöpf-Schulz-Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. We now report a 59-year-old woman with SSPS in whom a homozygous nonsense mutation (p.Cys107X) in WNT10A was detected. Mutations in this gene may also underlie odonto-onycho-dermal dysplasia and other ectodermal dysplasia syndromes. To date, 16 different WNT10A mutations have been reported, although considerable clinical and molecular overlap exists. This report demonstrates the molecular basis of a further case of SSPS and highlights the clinical features of this unusual ectodermal dysplasia syndrome.

Authors+Show Affiliations

St John's Institute of Dermatology, King's College London, London, UK.No 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

21834823

Citation

Petrof, Gabriela, et al. "Schöpf-Schulz-Passarge Syndrome Resulting From a Homozygous Nonsense Mutation, p.Cys107X, in WNT10A." The Australasian Journal of Dermatology, vol. 52, no. 3, 2011, pp. 224-6.
Petrof G, Fong K, Lai-Cheong JE, et al. Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. Australas J Dermatol. 2011;52(3):224-6.
Petrof, G., Fong, K., Lai-Cheong, J. E., Cockayne, S. E., & McGrath, J. A. (2011). Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. The Australasian Journal of Dermatology, 52(3), 224-6. https://doi.org/10.1111/j.1440-0960.2011.00788.x
Petrof G, et al. Schöpf-Schulz-Passarge Syndrome Resulting From a Homozygous Nonsense Mutation, p.Cys107X, in WNT10A. Australas J Dermatol. 2011;52(3):224-6. PubMed PMID: 21834823.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. AU - Petrof,Gabriela, AU - Fong,Kenneth, AU - Lai-Cheong,Joey E, AU - Cockayne,Sarah E, AU - McGrath,John A, Y1 - 2011/06/29/ PY - 2011/8/13/entrez PY - 2011/8/13/pubmed PY - 2012/1/18/medline SP - 224 EP - 6 JF - The Australasian journal of dermatology JO - Australas J Dermatol VL - 52 IS - 3 N2 - Schöpf-Schulz-Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. We now report a 59-year-old woman with SSPS in whom a homozygous nonsense mutation (p.Cys107X) in WNT10A was detected. Mutations in this gene may also underlie odonto-onycho-dermal dysplasia and other ectodermal dysplasia syndromes. To date, 16 different WNT10A mutations have been reported, although considerable clinical and molecular overlap exists. This report demonstrates the molecular basis of a further case of SSPS and highlights the clinical features of this unusual ectodermal dysplasia syndrome. SN - 1440-0960 UR - https://wwww.unboundmedicine.com/medline/citation/21834823/Schöpf_Schulz_Passarge_syndrome_resulting_from_a_homozygous_nonsense_mutation_p_Cys107X_in_WNT10A_ DB - PRIME DP - Unbound Medicine ER -