Article
Loss-of-function variants in SAT1 cause X-linked childhood-onset systemic lupus erythematosus.
Annals of the rheumatic diseases - 1 Dec 2022
Xu Lingxiao, Zhao Jian, Sun Qing, Xu Xue, Wang Lei, Liu Ting, Wu Yunjuan, Zhu Jingfeng, Geng Linyu, Deng Yun, Awgulewitsch Alexander, Kamen Diane L, Oates Jim C, Raj Prithvi, Wakeland Edward K, Scofield R Hal, Guthridge Joel M, James Judith A, Hahn Bevra H, McCurdy Deborah K, Wang Fang, Zhang Miaojia, Tan Wenfeng, Gilkeson Gary S, Tsao Betty P
Abstract excerpt
OBJECTIVES: Families that contain multiple siblings affected with childhood onset of systemic lupus erythematosus (SLE) likely have strong genetic predispositions. We performed whole exome sequencing (WES) to identify familial rare risk variants and to assess their effects in lupus. METHODS: Sanger sequencing validated the two ultra-rare, predicted pathogenic risk variants discovered by WES and identified...
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