Double Mosaicism in Xia-Gibbs Syndrome.
Jianhong Hu1,2, Moez Dawood1,2,3, Heer Hemant Mehta1
1Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
American Journal of Medical Genetics. Part A
|February 25, 2026
Summary
This study details a rare case of Xia-Gibbs Syndrome (XGS) in a 10-year-old female, revealing double mosaicism in the AHDC1 gene. Advanced sequencing confirmed adjacent variants, offering insights into complex genetic events in neurodevelopmental disorders.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Molecular Biology
Background:
- Xia-Gibbs Syndrome (XGS) is a rare neurodevelopmental disorder (NDD) linked to de novo pathogenic variants in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene.
- The disorder is characterized by severe developmental delay, hypotonia, seizures, and dysmorphic features.
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