Article
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
American journal of human genetics - 2 Jul 2020
Wang Huijun, Humbatova Aytaj, Liu Yuanxiang, Qin Wen, Lee Mingyang, Cesarato Nicole, Kortüm Fanny, Kumar Sheetal, Romano Maria Teresa, Dai Shangzhi, Mo Ran, Sivalingam Sugirthan, Motameny Susanne, Wu Yuan, Wang Xiaopeng, Niu Xinwu, Geng Songmei, Bornholdt Dorothea, Kroisel Peter M, Tadini Gianluca, Walter Scott D, Hauck Fabian, Girisha Katta M, Calza Anne-Marie, Bottani Armand, Altmüller Janine, Buness Andreas, Yang Shuxia, Sun Xiujuan, Ma Lin, Kutsche Kerstin, Grzeschik Karl-Heinz, Betz Regina C, Lin Zhimiao
Abstract excerpt
IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report describes the identification via whole-exome sequencing of three heterozygous mutations in SREBF1 in 11 unrelated, ethnically diverse individuals with autosomal-dominant...
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