ATP7B variant spectrum in a French pediatric Wilson disease cohort
| dc.rights.license | open | en_US |
| dc.contributor.author | COUCHONNAL, Eduardo | |
| dc.contributor.author | BOUCHARD, Sophie | |
| dc.contributor.author | SANDAHL, Thomas Damgaard | |
| dc.contributor.author | PAGAN, Cecile | |
| dc.contributor.author | LION-FRANCOIS, Laurence | |
| dc.contributor.author | GUILLAUD, Olivier | |
| dc.contributor.author | HABES, Dalila | |
| dc.contributor.author | DEBRAY, Dominique | |
| hal.structure.identifier | Bordeaux population health [BPH] | |
| dc.contributor.author | LAMIREAU, Thierry | |
| dc.contributor.author | BROUE, Pierre | |
| dc.contributor.author | FABRE, Alexandre | |
| dc.contributor.author | VANLEMMENS, Claire | |
| dc.contributor.author | SOBESKY, Rodolphe | |
| dc.contributor.author | GOTTRAND, Frederic | |
| dc.contributor.author | BRIDOUX-HENNO, Laure | |
| dc.contributor.author | BELMALIH, Abdelouahed | |
| dc.contributor.author | POUJOIS, Aurelia | |
| dc.contributor.author | BRUNET, Anne Sophie | |
| dc.contributor.author | LACHAUX, Alain | |
| dc.contributor.author | BOST, Muriel | |
| dc.date.accessioned | 2021-12-07T08:06:42Z | |
| dc.date.available | 2021-12-07T08:06:42Z | |
| dc.date.issued | 2021-10 | |
| dc.identifier.issn | 1878-0849 (Electronic) 1769-7212 (Linking) | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/124009 | |
| dc.description.abstractEn | BACKGROUND/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.iso | EN | en_US |
| dc.subject.en | Wilson's disease | |
| dc.subject.en | ATP7B | |
| dc.subject.en | p.His1069Gln | |
| dc.subject.en | Phenotype-genotype correlation | |
| dc.title.en | ATP7B variant spectrum in a French pediatric Wilson disease cohort | |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1016/j.ejmg.2021.104305 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Santé publique et épidémiologie | en_US |
| dc.identifier.pubmed | 34400371 | en_US |
| bordeaux.journal | European Journal of Medical Genetics | en_US |
| bordeaux.page | 104305 | en_US |
| bordeaux.volume | 64 | en_US |
| bordeaux.hal.laboratories | Bordeaux Population Health Research Center (BPH) - UMR 1219 | en_US |
| bordeaux.issue | 10 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.team | LEHA_BPH | |
| bordeaux.team | LEHA_BPH | |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.identifier | hal-03468275 | |
| hal.version | 1 | |
| hal.date.transferred | 2021-12-07T08:06:45Z | |
| hal.export | true | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=European%20Journal%20of%20Medical%20Genetics&rft.date=2021-10&rft.volume=64&rft.issue=10&rft.spage=104305&rft.epage=104305&rft.eissn=1878-0849%20(Electronic)%201769-7212%20(Linking)&rft.issn=1878-0849%20(Electronic)%201769-7212%20(Linking)&rft.au=COUCHONNAL,%20Eduardo&BOUCHARD,%20Sophie&SANDAHL,%20Thomas%20Damgaard&PAGAN,%20Cecile&LION-FRANCOIS,%20Laurence&rft.genre=article |
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