Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
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DOI：
10.1111/ijd.13778
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发表时间：
2017-12
影响因子：
3.6
通讯作者：
Ahmad W
中科院分区：
文献类型：
--
作者：
Shah K;Mehmood S;Jan A;Abbe I;Hussain Ali R;Khan A;Chishti MS;Lee K;Ahmad F;Ansar M;University of Washington Center for Mendelian Genomics;Shahzad S;Nickerson DA;Bamshad MJ;Coucke PJ;Santos-Cortez RLP;Spritz RA;Leal SM;Ahmad W
Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. Methods Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. Exome sequencing identified seven homozygous sequence variants in different families, including: c.27delT in FERMT1; c.836delA in ABHD5; c.2453C>T in ERCC5; c.5314C>T in COL7A1; c.1630C>T in ALOXE3; c.502C>T in PPOX; and c.10G>T in ALDH3A2. Sanger sequencing revealed three homozygous variants: c.1718 + 2A>G in FERMT1; c.10459A>T in FLG; and c.92delT in the KRT14 genes as the underlying genetic cause of skin phenotypes. This study supports the use of exome sequencing as a powerful, efficient tool for identifying genes that underlie rare monogenic skin disorders.
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通讯作者：
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