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

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  • 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 Ø Andersen
  • Charlotte Brasch-Andersen
  • Christina R Fagerberg
  • Niels O Illum
  • Mette B Thorup
  • Pernille A Gregersen
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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
Pages (from-to)1-6
Number of pages6
ISSN1769-7212
DOIs
Publication statusPublished - Sep 2021

Bibliographical note

Copyright © 2021. Published by Elsevier Masson SAS.

    Research areas

  • Adolescent, Adult, Craniofacial Abnormalities/genetics, DNA-Binding Proteins/genetics, Developmental Disabilities/genetics, Female, Foot Deformities/genetics, Frameshift Mutation, Humans, Male, Muscle Hypotonia/genetics, Phenotype, Syndrome, Young Adult, Reverse phenotyping, Dysmorphism, Whole exome sequencing, Xia-gibbs syndrome, AHDC1

ID: 73321471