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. 2017 Dec;9(1):22-24.
doi: 10.1159/000479359. Epub 2017 Aug 12.

A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child

Leila Dardour  1 , Katrien Cosyns  2 , Koenraad Devriendt  1
Affiliations

A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child

Leila Dardour et al. Mol Syndromol. 2017 Dec.

Abstract

Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in PVRL4 coding for nectin-4. Five different mutations in the PVRL4 gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c.247C>T, p.His83Tyr) in a consanguineous Turkish family.

Keywords: Ectodermal dysplasia; PVRL4; Syndactyly.

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Figures

Fig. 1.
Fig. 1.
Clinical features of ectodermal dysplasia-syndactyly syndrome. a Dry and sparse hair and eyebrows. b, c Small widely spaced teeth with conical crowns. d, e Bilateral webbing between the 2nd and 3rd fingers. f Bilateral cutaneous syndactyly of toes 3–5.
See this image and copyright information in PMC

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