Whole exome sequencing and transcriptome analysis in two unrelated patients with novel <i>SET</i> mutations
作者全名："Pan, Xin; Liu, Sihan; Feng, Xiaoshu; Liu, Li; Zhang, Xu; Qian, Guanhua; Liang, Na; Yao, Hong; Dong, Xiaojing; Tan, Bo"
作者地址："[Pan, Xin; Liu, Li; Zhang, Xu; Qian, Guanhua; Yao, Hong; Dong, Xiaojing; Tan, Bo] Chongqing Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 2, Chongqing, Peoples R China; [Liu, Sihan; Feng, Xiaoshu] Sichuan Univ, Inst Rare Dis, West China Hosp, Chengdu, Peoples R China; [Liang, Na] Chongqing Univ, Coll Comp Sci, Chongqing, Peoples R China"
通信作者："Tan, B (通讯作者)，Chongqing Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 2, Chongqing, Peoples R China."
来源：JOURNAL OF HUMAN GENETICS
ESI学科分类：MOLECULAR BIOLOGY & GENETICS
WOS号：WOS:001070337400001
JCR分区：Q2
影响因子：2.6
年份：2023
卷号：
期号：
开始页：
结束页：
文献类型：Article; Early Access
关键词：
摘要："The human SET nuclear proto-oncogene (SET) gene is a protein-coding gene that encodes proteins that affects chromatin remodeling and gene transcription. Mutations in the SET gene have been reported to cause intellectual disability (ID) and epilepsy. In this study, we collected and analyzed clinical, genetic, and transcript features of two unrelated Chinese patients with ID. Both patients were characterized by moderate intellectual disability. Whole-exome sequencing identified two novel heterozygous mutations in the SET gene: NM_001122821.1:c.532-3 T > A and NM_001122821.1:c.3 G > C (p.0?). Additionally, RNA sequencing revealed widespread dysregulation of genes involved in NF-kB signaling and neuronal system in these two patients. To our knowledge, this is the first report of SET mutations causing ID in the Chinese population, broadening the genetic and ethnic spectrum of SET-related disorders and highlighting the importance of screening for SET gene variants."
基金机构：We appreciate the patients and their family members for their participation in this study.
基金资助正文：We appreciate the patients and their family members for their participation in this study.
