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Region Hovedstaden - en del af Københavns Universitetshospital
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DNA methylation episignature in Gabriele-de Vries syndrome

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  • Florian Cherik
  • Jack Reilly
  • Jennifer Kerkhof
  • Michael Levy
  • Haley McConkey
  • Mouna Barat-Houari
  • Kameryn M Butler
  • Christine Coubes
  • Jennifer A Lee
  • Gwenael Le Guyader
  • Raymond J Louie
  • Wesley G Patterson
  • Matthew L Tedder
  • Mads Bak
  • Trine Bjørg Hammer
  • William Craigen
  • Florence Démurger
  • Christèle Dubourg
  • Mélanie Fradin
  • Rachel Franciskovich
  • Eirik Frengen
  • Jennifer Friedman
  • Nathalie Ruiz Palares
  • Maria Iascone
  • Doriana Misceo
  • Pauline Monin
  • Sylvie Odent
  • Christophe Philippe
  • Flavien Rouxel
  • Veronica Saletti
  • Petter Strømme
  • Perla Cassayre Thulin
  • Bekim Sadikovic
  • David Genevieve
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PURPOSE: Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotype and to better understand the molecular basis of the syndrome, we analyzed clinical data and performed genome-wide DNA methylation analysis of a series of individuals carrying a YY1 variant.

METHODS: Clinical data were collected for 13 individuals not yet reported through an international call for collaboration. DNA was collected for 11 of these individuals and 2 previously reported individuals in an attempt to delineate a specific DNA methylation signature in GADEVS.

RESULTS: Phenotype in most individuals overlapped with the previously described features. We described 1 individual with atypical phenotype, heterozygous for a missense variant in a domain usually not involved in individuals with YY1 pathogenic missense variations. We also described a specific peripheral blood DNA methylation profile associated with YY1 variants.

CONCLUSION: We reported a distinct DNA methylation episignature in GADEVS. We expanded the clinical profile of GADEVS to include thin/sparse hair and cryptorchidism. We also highlighted the utility of DNA methylation episignature analysis for classification of variants of unknown clinical significance.

OriginalsprogEngelsk
TidsskriftGenetics in medicine : official journal of the American College of Medical Genetics
Vol/bind24
Udgave nummer4
Sider (fra-til)905-914
Antal sider10
ISSN1098-3600
DOI
StatusUdgivet - apr. 2022

Bibliografisk note

Crown Copyright © 2021. Published by Elsevier Inc. All rights reserved.

ID: 73320934