ATP7B variant spectrum in a French pediatric Wilson disease cohort
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | ATP7B variant spectrum in a French pediatric Wilson disease cohort |
| Type de publication | Journal Article |
| Year of Publication | 2021 |
| Auteurs | Couchonnal E, Bouchard S, Sandahl TDamgaard, Pagan C, Lion-Francois L, Guillaud O, Habes D, Debray D, Lamireau T, Broue P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Belmalih A, Poujois A, Brunet ASophie, Lachaux A, Bost M |
| Journal | EUROPEAN JOURNAL OF MEDICAL GENETICS |
| Volume | 64 |
| Pagination | 104305 |
| Date Published | OCT |
| Type of Article | Article |
| ISSN | 1769-7212 |
| Mots-clés | ATP7B, p.His1069Gln, Phenotype-genotype correlation, Wilson's disease |
| Résumé | {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 |
| DOI | 10.1016/j.ejmg.2021.104305 |