X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.

Autor:	Milovidova, T.B., Schagina, O.A., Freire, M.V., Demina, N.A., Filatova, A.Y., Skoblov, M.Y., Stepanova, A.A., Chuhrova, A.L., Polyakov, A.V.
Předmět:	ECTODERMAL dysplasia X chromosome MEDICAL genetics FAMILIES
Zdroj:	Journal of the European Academy of Dermatology & Venereology; Dec2019, Vol. 33 Issue 12, pe468-e470, 3p
Abstrakt:	X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasias.[1] Mutations in the I EDA i gene are the cause of XLHED.[2] This study describes a large Russian family with XLHED (Fig.). Numbers under the genotype of female carriers indicate the percentage of X chromosome inactivation: 92% - of the mutant X chromosome, 8% - of the intact X chromosome (e.g. proband's mother IV.6). The proband's I EDA i gene coding sequence and exon-intron junction analysis by Sanger sequencing revealed a synonymous p. Ser267= (c.801A>G) variant in exon 7. [Extracted from the article]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Plný text