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

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 ext

SUBMITTER: Lin SZ 

PROVIDER: S-EPMC9353910 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature