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A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
Int J Dermatol. 2018 Feb; 57(2):223-226.IJ

Abstract

Ectodermal dysplasias (EDs) are a group of hereditary disorders defined by alterations in two or more ectodermal structures. One recently described rare entity is the autosomal recessive inherited ectodermal dysplasia-syndactyly syndrome 1 (EDSS1). Homozygous and compound heterozygous missense and nonsense mutations in the poliovirus receptor related-4 (PVRL4) gene, encoding cell adhesion molecule nectin-4, have been identified as causal for EDSS1. We here report a consanguineous family with a 2-year-old girl featuring EDSS1, including slowly progressive alopecia on the head, pili torti-like twisted hairs in trichoscopy, widely spaced, peg-shaped and conical teeth, proximal syndactyly with fusion of the 2nd to 4th toes, and generalized dry skin. There was no palmoplantar hyperkeratosis and sweating appeared normal to slightly enhanced, especially on the head. Using exome sequencing, we identified the novel homozygous nonsense mutation c.229C>T (p.Gln77Ter) in PVRL4.

Authors+Show Affiliations

Department of Dermatology, Sozialmedizinisches Zentrum Ost (Donauspital), Vienna, Austria.Department of Dermatology, Medical University of Innsbruck, Innsbruck, Austria.Department of Dermatology, Sozialmedizinisches Zentrum Ost (Donauspital), Vienna, Austria.

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

29265343

Citation

Florian, Rupert, et al. "A Novel Homozygous Mutation in PVRL4 Causes Ectodermal Dysplasia-syndactyly Syndrome 1." International Journal of Dermatology, vol. 57, no. 2, 2018, pp. 223-226.
Florian R, Gruber R, Volc-Platzer B. A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. Int J Dermatol. 2018;57(2):223-226.
Florian, R., Gruber, R., & Volc-Platzer, B. (2018). A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. International Journal of Dermatology, 57(2), 223-226. https://doi.org/10.1111/ijd.13862
Florian R, Gruber R, Volc-Platzer B. A Novel Homozygous Mutation in PVRL4 Causes Ectodermal Dysplasia-syndactyly Syndrome 1. Int J Dermatol. 2018;57(2):223-226. PubMed PMID: 29265343.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. AU - Florian,Rupert, AU - Gruber,Robert, AU - Volc-Platzer,Beatrix, Y1 - 2017/12/19/ PY - 2017/08/27/received PY - 2017/10/05/revised PY - 2017/11/10/accepted PY - 2017/12/22/pubmed PY - 2018/8/8/medline PY - 2017/12/22/entrez SP - 223 EP - 226 JF - International journal of dermatology JO - Int J Dermatol VL - 57 IS - 2 N2 - Ectodermal dysplasias (EDs) are a group of hereditary disorders defined by alterations in two or more ectodermal structures. One recently described rare entity is the autosomal recessive inherited ectodermal dysplasia-syndactyly syndrome 1 (EDSS1). Homozygous and compound heterozygous missense and nonsense mutations in the poliovirus receptor related-4 (PVRL4) gene, encoding cell adhesion molecule nectin-4, have been identified as causal for EDSS1. We here report a consanguineous family with a 2-year-old girl featuring EDSS1, including slowly progressive alopecia on the head, pili torti-like twisted hairs in trichoscopy, widely spaced, peg-shaped and conical teeth, proximal syndactyly with fusion of the 2nd to 4th toes, and generalized dry skin. There was no palmoplantar hyperkeratosis and sweating appeared normal to slightly enhanced, especially on the head. Using exome sequencing, we identified the novel homozygous nonsense mutation c.229C>T (p.Gln77Ter) in PVRL4. SN - 1365-4632 UR - https://wwww.unboundmedicine.com/medline/citation/29265343/A_novel_homozygous_mutation_in_PVRL4_causes_ectodermal_dysplasia_syndactyly_syndrome_1_ DB - PRIME DP - Unbound Medicine ER -