Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

Soren L. Faergeman*, Anders B. Bojesen, Maria Rasmussen, Naja Becher, Lotte Andreasen, Brian N. Andersen, Emilie Erbs, Dorte L. Lildballe, Jens Erik K. Nielsen, Monica Zilmer, Trine Bjørg Hammer, Mikkel Andersen, Charlotte Brasch-Andersen, Christina R. Fagerberg, Niels O. Illum, Mette B. Thorup, Pernille A. Gregersen

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

5 Citations (Scopus)

Abstract

Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.

Original languageEnglish
Article number104280
JournalEuropean Journal of Medical Genetics
Volume64
Issue number9
ISSN1769-7212
DOIs
Publication statusPublished - Sep 2021

Bibliographical note

Publisher Copyright:
© 2021

Keywords

  • AHDC1
  • Dysmorphism
  • Reverse phenotyping
  • Whole exome sequencing
  • Xia-gibbs syndrome

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