Open AccessNovel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report
Author(s) -
Lin Song,
Hongmei Xie,
Yan-Lai Qu,
Wen Gao,
Wanqi Wang,
Jiayi Li,
Xiaogang Feng,
Chun-Quan Jin
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i21.7517
Subject(s) - frameshift mutation , exon , genetics , gene , hypotonia , medicine , coding region , mutation , biology
Xia-Gibbs syndrome (XGS, OMIM: 615829), caused by mutations within the AT-Hook 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.