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
Affiliations
- PMID: 29456479
- PMCID: PMC5803726
- DOI: 10.1159/000479359
Item in Clipboard
A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child
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.
Figures
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.
Similar articles
-
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.Int J Dermatol. 2018 Feb;57(2):223-226. doi: 10.1111/ijd.13862. Epub 2017 Dec 19. Int J Dermatol. 2018. PMID: 29265343 Review.
-
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.Am J Hum Genet. 2010 Aug 13;87(2):265-73. doi: 10.1016/j.ajhg.2010.07.003. Am J Hum Genet. 2010. PMID: 20691405 Free PMC article.
-
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.Ann Hum Genet. 2018 Jul;82(4):232-238. doi: 10.1111/ahg.12244. Epub 2018 Feb 12. Ann Hum Genet. 2018. PMID: 29430627
-
A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.Ann Hum Genet. 2015 Mar;79(2):92-8. doi: 10.1111/ahg.12094. Epub 2014 Dec 22. Ann Hum Genet. 2015. PMID: 25529316
-
Nectinopathies: an emerging group of ectodermal dysplasia syndromes.G Ital Dermatol Venereol. 2013 Feb;148(1):59-64. G Ital Dermatol Venereol. 2013. PMID: 23407077 Review.
Cited by
-
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.Genet Res (Camb). 2023 Oct 4;2023:9999660. doi: 10.1155/2023/9999660. eCollection 2023. Genet Res (Camb). 2023. PMID: 37829154 Free PMC article.
-
Therapeutic prospects of nectin-4 in cancer: applications and value.Front Oncol. 2024 Mar 28;14:1354543. doi: 10.3389/fonc.2024.1354543. eCollection 2024. Front Oncol. 2024. PMID: 38606099 Free PMC article. Review.
-
Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.Genes (Basel). 2021 May 17;12(5):748. doi: 10.3390/genes12050748. Genes (Basel). 2021. PMID: 34067522 Free PMC article. Review.
-
A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.An Bras Dermatol. 2023 Sep-Oct;98(5):580-586. doi: 10.1016/j.abd.2022.07.009. Epub 2023 May 12. An Bras Dermatol. 2023. PMID: 37183149 Free PMC article.
References
-
- Brancati F, Agolini E, Fortugno P. Nectinopathies: an emerging group of ectodermal dysplasia syndromes. G Ital Dermatol Venereol. 2013;148:59–64. - PubMed
-
- Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, et al. Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the Rac1 pathway and the kinetics of adherens junction formation. J Invest Dermatol. 2014;134:2146–2153. - PubMed
-
- Freire-Maia N. Ectodermal dysplasias. Hum Hered. 1971;21:309–312. - PubMed
-
- Jelani M, Chishti MS, Ahmad W. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1) J Hum Genet. 2011;56:352–357. - PubMed
LinkOut - more resources
Full Text Sources
Other Literature Sources
