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Article

Double Mosaicism in Xia-Gibbs Syndrome.

American journal of medical genetics. Part A - 1 Jul 2026

Hu Jianhong, Dawood Moez, Mehta Heer Hemant, Pasham Divya, Kaur Manveer, Kalra Divya, Walker Kimberly, Gingras Marie-Claude, Lupski James R, Sabo Aniko, Pehlivan Davut, Gibbs Richard A

Abstract excerpt

Xia-Gibbs Syndrome (XGS; MIM: 615829) is a rare neurodevelopment disorder (NDD) caused by de novo pathogenic variants in the single coding exon of the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene. In this study, we investigate a rare case of double mosaicism in a 10-year-old female with XGS. The proband presented with characteristic clinical findings observed in XGS, including severe developmental delay,...

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Identifiers

PMID: 41738116
DOI: 10.1002/ajmg.a.70086

Genes

AHDC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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