The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
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ABSTRACT: Synopsis
Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.
SUBMITTER: Delanne J
PROVIDER: S-EPMC8528787 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
Publications
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne Julian J Bruel Ange-Line AL Huet Frédéric F Moutton Sébastien S Nambot Sophie S Grisval Margot M Houcinat Nada N Kuentz Paul P Sorlin Arthur A Callier Patrick P Jean-Marcais Nolwenn N Mosca-Boidron Anne-Laure AL Mau-Them Frédéric Tran FT Denommé-Pichon Anne-Sophie AS Vitobello Antonio A Lehalle Daphné D El Chehadeh Salima S Francannet Christine C Lebrun Marine M Lambert Laetitia L Jacquemont Marie-Line ML Gerard-Blanluet Marion M Alessandri Jean-Luc JL Willems Marjolaine M Thevenon Julien J Chouchane Mondher M Darmency Véronique V Fatus-Fauconnier Clémence C Gay Sébastien S Bournez Marie M Masurel Alice A Leguy Vanessa V Duffourd Yannis Y Philippe Christophe C Feillet François F Faivre Laurence L Thauvin-Robinet Christel C
Molecular genetics and metabolism reports 20211018
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.<h4>Synopsis ...[more]
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