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ATP7B variant spectrum in a French pediatric Wilson disease cohort

dc.rights.licenseopenen_US
dc.contributor.authorCOUCHONNAL, Eduardo
dc.contributor.authorBOUCHARD, Sophie
dc.contributor.authorSANDAHL, Thomas Damgaard
dc.contributor.authorPAGAN, Cecile
dc.contributor.authorLION-FRANCOIS, Laurence
dc.contributor.authorGUILLAUD, Olivier
dc.contributor.authorHABES, Dalila
dc.contributor.authorDEBRAY, Dominique
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorLAMIREAU, Thierry
dc.contributor.authorBROUE, Pierre
dc.contributor.authorFABRE, Alexandre
dc.contributor.authorVANLEMMENS, Claire
dc.contributor.authorSOBESKY, Rodolphe
dc.contributor.authorGOTTRAND, Frederic
dc.contributor.authorBRIDOUX-HENNO, Laure
dc.contributor.authorBELMALIH, Abdelouahed
dc.contributor.authorPOUJOIS, Aurelia
dc.contributor.authorBRUNET, Anne Sophie
dc.contributor.authorLACHAUX, Alain
dc.contributor.authorBOST, Muriel
dc.date.accessioned2021-12-07T08:06:42Z
dc.date.available2021-12-07T08:06:42Z
dc.date.issued2021-10
dc.identifier.issn1878-0849 (Electronic) 1769-7212 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/124009
dc.description.abstractEnBACKGROUND/AIM: The spectrum of ATP7B variants varies significantly according to geographic distribution, and there is insufficient data on the variants observed in the French population. METHODS: Clinical data of 113 children included in the French WD national registry were gathered from March 01, 1995 to July 01, 2020. Data included epidemiological, clinical, laboratory, genetics. RESULTS: Diagnosis was made at a mean age of 11.0 ± 4.1 years (range 1-18 years). At diagnosis, 91 patients (79.8 %) had hepatic manifestations, 18 (15.8 %) presented neurological manifestations, and 4 patients (3.5 %) were asymptomatic. Only 29 patients (25 %) were homozygous for a variant. We have found a total of 102 different variants including 14 novel variants. Recurrent variant p.His1069Gln was the most prevalent, n = 31 alleles (14,2%), with only seven homozygous; in contrast 55% of variants are identified in only one family. 45% were truncating variants. In respect of mutated exon, the three most prevalent were exon 14 (16.5%), exon 8 (13.8%), and exon 3 (11.5%). When considering patients with two Nonsense / Frameshift variants as a group and those with two Missense variants, we found significantly lower ceruloplasmin for the former: 2.8 ± 0.7 mg/dl vs 8.4 ± 5mg/dl (p<0.05). CONCLUSION: p.His1069Gln is the most frequent variant (14,2%) and exons 14, 8, and 2 of the ATP7B gene account for 41.7% of total variants. However, there is significant heterogeneity in the French population concerning the other ATP7B variants. Nonsense / Frameshift variants were associated with lower ceruloplasmin levels.
dc.language.isoENen_US
dc.subject.enWilson's disease
dc.subject.enATP7B
dc.subject.enp.His1069Gln
dc.subject.enPhenotype-genotype correlation
dc.title.enATP7B variant spectrum in a French pediatric Wilson disease cohort
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.ejmg.2021.104305en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed34400371en_US
bordeaux.journalEuropean Journal of Medical Geneticsen_US
bordeaux.page104305en_US
bordeaux.volume64en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue10en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamLEHA_BPH
bordeaux.teamLEHA_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03468275
hal.version1
hal.date.transferred2021-12-07T08:06:45Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.jtitle=European%20Journal%20of%20Medical%20Genetics&amp;rft.date=2021-10&amp;rft.volume=64&amp;rft.issue=10&amp;rft.spage=104305&amp;rft.epage=104305&amp;rft.eissn=1878-0849%20(Electronic)%201769-7212%20(Linking)&amp;rft.issn=1878-0849%20(Electronic)%201769-7212%20(Linking)&amp;rft.au=COUCHONNAL,%20Eduardo&amp;BOUCHARD,%20Sophie&amp;SANDAHL,%20Thomas%20Damgaard&amp;PAGAN,%20Cecile&amp;LION-FRANCOIS,%20Laurence&amp;rft.genre=article


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