Bardet-Biedl syndrome - tantenatal presentation of 45 fetuses with biallelic pathogenic variants in known BBS genes.
Fiche publication
Date publication
janvier 2019
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Dr POCH Olivier
Tous les auteurs :
Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey AS, Nourisson E, Alanio-Detton E, Antal MC, Attie-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck C, Poch O, Dollfus H, Schaefer E, Muller J
Lien Pubmed
Résumé
Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of familial history. However, these findings are not specific to BBS, raising the problem of differential diagnoses and prognosis. Molecular diagnosis during pregnancies remains a timely challenge for this heterogeneous disease (22 known genes). We report here the largest cohort of BBS fetuses to better characterize the antenatal presentation. Prenatal US and/or autopsy data from 74 fetuses with putative BBS diagnosis were collected out of which molecular diagnosis was established in 51 cases, mainly in BBS genes (45 cases) following the classical gene distribution, but also in other ciliopathy genes (6 cases). Based on this, an updated diagnostic decision tree is proposed. No genotype/phenotype correlation could be established but postaxial polydactyly (82%) and renal cysts (78%) were the most prevalent symptoms. However, autopsy revealed polydactyly that was missed by prenatal US in 55% of the cases. Polydactyly must be carefully looked for in pregnancies with apparently isolated renal anomalies in fetuses. This article is protected by copyright. All rights reserved.
Mots clés
BBS, Bardet-Biedl syndrome, antenatal presentation, diagnostic strategy
Référence
Clin. Genet.. 2019 Jan 7;: