Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient:A case report  

作　　者：Shuang-Zhu Lin Hong-Yan Xie Yan-Lai Qu Wen Gao Wan-Qi Wang Jia-Yi Li Xiao-Chun Feng Chun-Quan Jin 

机构地区：[1]Diagnosis and Treatment Center for Children,The First Affiliated Hospital to Changchun University of Chinese Medicine,Changchun 130021,Jilin Province,China [2]Changchun University of Chinese Medicine,Changchun 130000,Jilin Province,China

出　　处：《World Journal of Clinical Cases》2022年第21期7517-7522,共6页世界临床病例杂志

基　　金：Supported by National Administration of Traditional Chinese Medicine,No.2019XZZX-EK002.

摘　　要：BACKGROUND Xia–Gibbs syndrome(XGS,OMIM:615829),caused by mutations within the ATHook DNA-binding motif-containing protein 1(AHDC1)gene(OMIM:615790),located on the short arm of chromosome 1 within the cytogenetic band 1p36.11,contains five noncoding 5 exons,a single 4.9-kb coding exon,and a noncoding 3 exon.CASE SUMMARY In this case report,we diagnosed and treated a 6-mo-old girl with XGS.The primary clinical symptoms included global developmental delay,hypotonia,and mild dysmorphic features.Using high-throughput whole-exosome sequencing to sequence the patient and her parents,and the results showed a novel frameshift mutation of c.1155dupG(p.Arg386Alafs*3)in the AHDC1 gene.The paternal gene was wild type.CONCLUSION This report extends the mutation spectrum of the AHDC1 gene to provide the diagnostic basis for genetic counseling in families with XGS.

关 键 词：Xia-Gibbs syndrome AT-Hook DNA-binding motif-containing protein 1 Children Global developmental delay Case report 

分 类 号：R725.9[医药卫生—儿科]