The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Fiche publication

Date publication

décembre 2021


Molecular genetics and metabolism reports


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


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


Mol Genet Metab Rep. 2021 Dec;29:100812