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Case Reports
. 2022 Aug;188(8):2501-2504.
doi: 10.1002/ajmg.a.62844. Epub 2022 May 21.

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

Sumita Danda  1 , Chaitanya Datar  2 , Archana Kher  2 , Tanmay Deshpande  2 , Maya Mary Thomas  3 , Samuel P Oommen  4
Affiliations
Case Reports

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

Sumita Danda et al. Am J Med Genet A. 2022 Aug.

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.

Keywords: AHDC1; India; exome sequencing.

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References

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