Fiche publication
Date publication
décembre 2021
Journal
Molecular genetics and metabolism reports
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick
,
Pr HUET Frédéric
,
Pr FAIVRE Laurence
,
Pr PHILIPPE Christophe
,
Dr NAMBOT Sophie
,
Pr THAUVIN-ROBINET Christel
,
Pr KUENTZ Paul
Tous les auteurs :
Delanne J, Bruel AL, Huet F, Moutton S, Nambot S, Grisval M, Houcinat N, Kuentz P, Sorlin A, Callier P, Jean-Marcais N, Mosca-Boidron AL, Mau-Them FT, Denommé-Pichon AS, Vitobello A, Lehalle D, El Chehadeh S, Francannet C, Lebrun M, Lambert L, Jacquemont ML, Gerard-Blanluet M, Alessandri JL, Willems M, Thevenon J, Chouchane M, Darmency V, Fatus-Fauconnier C, Gay S, Bournez M, Masurel A, Leguy V, Duffourd Y, Philippe C, Feillet F, Faivre L, Thauvin-Robinet C
Lien Pubmed
Résumé
Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspecific developmental disorders (DD). IMDs were diagnosed in 12% of individuals with causative diagnosis (177/547). There are clear benefits of using ES in DD to diagnose IMD, particularly in cases where biochemical studies are unavailable.
Mots clés
Developmental delay, Exome sequencing, Genotype first, Inherited metabolic disorders, Intellectual disability
Référence
Mol Genet Metab Rep. 2021 Dec;29:100812
