Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel <i>CTCF</i> variants

作者全名："Tan, Bo; Liu, Sihan; Feng, Xiaoshu; Pan, Xin; Qian, Guanhua; Liu, Li; Zhang, Xu; Yao, Hong; Dong, Xiaojing"

作者地址："[Tan, Bo; Pan, Xin; Qian, Guanhua; Liu, Li; Zhang, Xu; Yao, Hong; Dong, Xiaojing] Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R China; [Liu, Sihan; Feng, Xiaoshu] Sichuan Univ, West China Hosp, Inst Rare Dis, Chengdu, Peoples R China"

通信作者："Dong, XJ (通讯作者)，Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R China."

来源：FRONTIERS IN PEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001058931100001

JCR分区：Q2

影响因子：2.1

年份：2023

卷号：11

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：RNA-seq; novel variant; CTCF; intellectual disability; clinical diagnosis

摘要："CCCTC-Binding Factor (CTCF) is a protein-coding gene involved in transcriptional regulation, insulator activity, and regulation of chromatin structure, and is closely associated with intellectual developmental disorders. In this study, we report two unrelated Chinese patients with intellectual disability (ID). According to variant interpretation results from exome sequencing data and RNA-seq data, we present two novel heterozygous CTCF variants, NM_006565.3:c.1519_2184del (p. Glu507_Arg727delins47) and NM_006565.3:c.1838_1852del (p.Glu613_Pro617del), found in two distinct unrelated patients, respectively. Moreover, RNA-seq data of patient 1 indicated the absence of the mutant transcript, while in patient 2, the RNA-seq data revealed a CTCF mRNA transcript with a deletion of 15 nucleotides. Notably, the RNA sequencing data revealed 507 differentially expressed genes shared between these two patients. Specifically, among them, 194 were down-regulated, and 313 were up-regulated, primarily involved in gene regulation and cellular response. Our study expands the genetic and clinical spectrum of CTCF and advances our understanding of the pathogenesis of CTCF in vivo."

基金机构："This work was supported by the Scientific and Technological Research Program of Chongqing Municipal Education Commission (Grant No. KJQN202200420), ""Kuanren talents"" project of the Second Affiliated Hospital of Chongqing Medical University (13-003-003), Na [13-003-003]; Scientific and Technological Research Program of Chongqing Municipal Education Commission [2020-01]; ""Kuanren talents"" project of the Second Affiliated Hospital of Chongqing Medical University [W0122]; Nan'an District Science and Health Joint Medical Scientific Research Project [2023FY201]; Program for Youth Innovation in Future Medicine, Chongqing Medical University; Maternal and Child Health Research Cultivation Project of the Chongqing Health Commission; [KJQN202200420]"

基金资助正文："This work was supported by the Scientific and Technological Research Program of Chongqing Municipal Education Commission (Grant No. KJQN202200420), ""Kuanren talents"" project of the Second Affiliated Hospital of Chongqing Medical University (13-003-003), Nan'an District Science and Health Joint Medical Scientific Research Project (2020-01), Program for Youth Innovation in Future Medicine, Chongqing Medical University (W0122), and Maternal and Child Health Research Cultivation Project of the Chongqing Health Commission (2023FY201)."