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Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

dc.rights.licenseopenen_US
dc.contributor.authorBILLES, Alexis
dc.contributor.authorPUJALTE, Mathilde
dc.contributor.authorJEDRASZAK, Guillaume
dc.contributor.authorAMSALLEM, Daniel
dc.contributor.authorBOUDRY-LABIS, Elise
dc.contributor.authorBOUTE, Odile
dc.contributor.authorBOUQUILLON, Sonia
dc.contributor.authorBRISCHOUX-BOUCHER, Elise
dc.contributor.authorCALLIER, Patrick
dc.contributor.authorCOUTTON, Charles
dc.contributor.authorDENIZET, Anne-Laude Avice
dc.contributor.authorDIETERICH, Klaus
dc.contributor.authorKUENTZ, Paul
dc.contributor.authorLESPINASSE, James
dc.contributor.authorMAZEL, Benoît
dc.contributor.authorMORIN, Gilles
dc.contributor.authorAMRAM, Florence
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorPENNAMEN, Perrine
dc.contributor.authorRIO, Marlène
dc.contributor.authorPIARD, Juliette
dc.contributor.authorPUTOUX, Audrey
dc.contributor.authorRAMA, Mélanie
dc.contributor.authorROZE-GUILLAUMEY, Virginie
dc.contributor.authorSCHLUTH-BOLARD, Caroline
dc.contributor.authorTILL, Marianne
dc.contributor.authorTROUVÉ, Chloé
dc.contributor.authorVIEVILLE, Gaëlle
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK, Caroline
dc.contributor.authorSANLAVILLE, Damien
dc.contributor.authorCHATRON, Nicolas
dc.date.accessioned2025-01-31T13:45:56Z
dc.date.available2025-01-31T13:45:56Z
dc.date.issued2024-09-01
dc.identifier.issn1399-0004en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/204689
dc.description.abstractEnXq28 int22h-1/int22h-2 duplication is the result of non-allelic homologous recombination between int22h-1/int22h-2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID, whereas all reported evaluated born males present mild to moderate ID, suggesting complete penetrance. We collected data on 15 families from eight university hospitals. Among them, 40 patients, 21 females (one fetus), and 19 males (two fetuses), were carriers of typical or atypical Xq28 int22h-1/int22h-2 duplication. Twenty-one individuals were considered asymptomatic (16 females and 5 males), without significantly higher rate of recurrent infections, atopia, overweight, or facial dysmorphism. Approximately 67% live-born males and 23% live-born female carriers of the typical duplication did not have obvious signs of intellectual disability, suggesting previously undescribed incomplete penetrance or low expression in certain carriers. The possibility of a second-hit or modifying factors to this possible susceptibility locus is yet to be studied but a possible observational bias should be considered in assessing such challenging X-chromosome copy number gains. Additional segregation studies should help to quantify this newly described incomplete penetrance.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enCLIC2
dc.subject.enRAB39B
dc.subject.enXq28 duplication
dc.subject.enXq28 int22h‐1/int22h‐2 duplication
dc.subject.enX‐linked intellectual disability
dc.subject.enincomplete penetrance
dc.title.enPossible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
dc.title.alternativeClin Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/cge.14525en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed38561231en_US
bordeaux.journalClinical Geneticsen_US
bordeaux.page234-246en_US
bordeaux.volume106en_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=Clinical%20Genetics&rft.date=2024-09-01&rft.volume=106&rft.issue=3&rft.spage=234-246&rft.epage=234-246&rft.eissn=1399-0004&rft.issn=1399-0004&rft.au=BILLES,%20Alexis&PUJALTE,%20Mathilde&JEDRASZAK,%20Guillaume&AMSALLEM,%20Daniel&BOUDRY-LABIS,%20Elise&rft.genre=article


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