DNA methylation episignature in Gabriele-de Vries syndrome - Biologie et génétique du cancer Accéder directement au contenu
Article Dans Une Revue Genetics in Medicine Année : 2022

DNA methylation episignature in Gabriele-de Vries syndrome

Jennifer Kerkhof
Michael Levy
Christine Coubes
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Flavien Rouxel
  • Fonction : Auteur
David Genevieve
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Résumé

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.
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hal-03578473 , version 1 (22-07-2024)

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Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael Levy, Haley Mcconkey, et al.. DNA methylation episignature in Gabriele-de Vries syndrome. Genetics in Medicine, 2022, 24 (4), pp.905-914. ⟨10.1016/j.gim.2021.12.003⟩. ⟨hal-03578473⟩
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