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

Authors :: 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
Source :: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Oct 18; Vol. 29, pp. 100812. Date of Electronic Publication: 2021 Oct 18 (Print Publication: 2021).
Publication Year :: 2021
Abstract: 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.<br />Synopsis: Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.<br />Competing Interests: The authors declare no conflicts of interest.<br /> (© 2021 Published by Elsevier Inc.)

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