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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.

dc.rights.licenseopenen_US
dc.contributor.authorFOROUTAN, Aidin
dc.contributor.authorHAGHSHENAS, Sadegheh
dc.contributor.authorBHAI, Pratibha
dc.contributor.authorLEVY, Michael A
dc.contributor.authorKERKHOF, Jennifer
dc.contributor.authorMCCONKEY, Haley
dc.contributor.authorNICETA, Marcello
dc.contributor.authorCIOLFI, Andrea
dc.contributor.authorPEDACE, Lucia
dc.contributor.authorMIELE, Evelina
dc.contributor.authorGENEVIEVE, David
dc.contributor.authorHEIDE, Solveig
dc.contributor.authorALDERS, Mariëlle
dc.contributor.authorZAMPINO, Giuseppe
dc.contributor.authorMERLA, Giuseppe
dc.contributor.authorFRADIN, Mélanie
dc.contributor.authorBIETH, Eric
dc.contributor.authorBONNEAU, Dominique
dc.contributor.authorDIETERICH, Klaus
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorFERGELOT, Patricia
dc.contributor.authorSCHAEFER, Elise
dc.contributor.authorFAIVRE, Laurence
dc.contributor.authorVITOBELLO, Antonio
dc.contributor.authorMAITZ, Silvia
dc.contributor.authorFISCHETTO, Rita
dc.contributor.authorGERVASINI, Cristina
dc.contributor.authorPICCIONE, Maria
dc.contributor.authorVAN DE LAAR, Ingrid
dc.contributor.authorTARTAGLIA, Marco
dc.contributor.authorSADIKOVIC, Bekim
dc.contributor.authorLEBRE, Anne-Sophie
dc.date.accessioned2023-10-31T10:22:00Z
dc.date.available2023-10-31T10:22:00Z
dc.date.issued2022-02-05
dc.identifier.issn1422-0067en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/184566
dc.description.abstractEnWiedemann-Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Interpretation and classification of rare variants can be challenging. A genome-wide DNA methylation episignature for -related syndrome could allow functional classification of variants and provide insights into the pathophysiology of WDSTS. Therefore, we assessed genome-wide DNA methylation profiles in a cohort of 60 patients with clinical diagnosis for WDSTS or Kabuki and identified a unique highly sensitive and specific DNA methylation episignature as a molecular biomarker of WDSTS. WDSTS episignature enabled classification of variants of uncertain significance in the gene as well as confirmation of diagnosis in patients with clinical presentation of WDSTS without known genetic variants. The changes in the methylation profile resulting from mutations involve global reduction in methylation in various genes, including homeobox gene promoters. These findings provide novel insights into the molecular etiology of WDSTS and explain the broad phenotypic spectrum of the disease.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enEpigenetics
dc.subject.enDNA methylation
dc.subject.enEpisignature
dc.subject.enWiedemann–Steiner syndrome
dc.subject.enKMT2A gene
dc.subject.enIntellectual disability
dc.subject.enNeurodevelopmental disorders
dc.title.enClinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
dc.title.alternativeInt J Mol Scien_US
dc.typeArticle de revueen_US
dc.subject.halSciences du Vivant [q-bio]/Biologie cellulaireen_US
dc.identifier.pubmed35163737en_US
bordeaux.journalInternational Journal of Molecular Sciencesen_US
bordeaux.volume23en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue3en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=International%20Journal%20of%20Molecular%20Sciences&rft.date=2022-02-05&rft.volume=23&rft.issue=3&rft.eissn=1422-0067&rft.issn=1422-0067&rft.au=FOROUTAN,%20Aidin&HAGHSHENAS,%20Sadegheh&BHAI,%20Pratibha&LEVY,%20Michael%20A&KERKHOF,%20Jennifer&rft.genre=article


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