Dataset Information
Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report.
Ontology highlight
ABSTRACT: Background
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.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.
SUBMITTER: Lin SZ
PROVIDER: S-EPMC9353910 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
Publications
Novel frameshift mutation in the <i>AHDC1</i> gene in a Chinese global developmental delay patient: A case report.
World journal of clinical cases 20220701 21
<h4>Background</h4>Xia-Gibbs syndrome (XGS, OMIM: 615829), caused by mutations within the AT-Hook DNA-binding motif-containing protein 1 (<i>AHDC1</i>) 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.<h4>Case summary</h4>In this case report, we diagnosed and treated a 6-mo-old girl with XGS. The primary clinical symptoms included global developmental delay, hypo ...[more]