Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

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 IFAP syndrome. SREBF1 encodes sterol regulatory element-binding protein 1 (SREBP1), which promotes the transcription of lipogenes involved in the biosynthesis of fatty acids and cholesterols.

Source: The American Journal of Human Genetics - June 2, 2020 Category: Genetics & Stem Cells Authors: Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Mingyang Lee, Nicole Cesarato, Fanny Kort üm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothe Tags: Article Source Type: research