First reported cases with Xia‐Gibbs syndrome from India harboring novel variants in AHDC1

Abstract

We report here two girls from different Indian families identified with novel variants in the AT Hook DNA Binding Motif Containing 1 gene (AHDC1) causing Xia-Gibbs syndrome. The diagnosis was made by clinical exome in both cases. Inconsistent dysmorphic features such as dolichocephaly in the first patient and brachycephaly in the second were observed. Prominent jaw and gelastic seizures were other features of patient 1. Thus, this syndrome, with developmental delay, poor expressive language and overlapping clinical phenotype requires the utility of next generation sequencing for diagnostic confirmation.

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

“…Cells expressing Ahdc1 , Nfia , and Nfix showed more generalized expression across populations of the coronal suture ( Figure S2 ). Accordingly, these genes are known to regulate multiple embryonic lineages and pathogenic variants were shown to cause varying phenotypes, with neurodevelopmental disorder a common feature [ 33 , 39 , 81 ].…”