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Review
. 2021 Oct 18:29:100812.
doi: 10.1016/j.ymgmr.2021.100812. eCollection 2021 Dec.

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

Julian Delanne  1   2 , Ange-Line Bruel  1   3 , Frédéric Huet  4 , Sébastien Moutton  1   2 , Sophie Nambot  1   2 , Margot Grisval  4 , Nada Houcinat  2 , Paul Kuentz  1   3   5 , Arthur Sorlin  1   2   3 , Patrick Callier  1   6 , Nolwenn Jean-Marcais  2 , Anne-Laure Mosca-Boidron  6 , Frédéric Tran Mau-Them  1   3 , Anne-Sophie Denommé-Pichon  1   3 , Antonio Vitobello  1   3 , Daphné Lehalle  2 , Salima El Chehadeh  2 , Christine Francannet  7 , Marine Lebrun  8 , Laetitia Lambert  9 , Marie-Line Jacquemont  10 , Marion Gerard-Blanluet  11 , Jean-Luc Alessandri  12 , Marjolaine Willems  13 , Julien Thevenon  1   2   3 , Mondher Chouchane  4 , Véronique Darmency  4 , Clémence Fatus-Fauconnier  4 , Sébastien Gay  14 , Marie Bournez  4 , Alice Masurel  2 , Vanessa Leguy  4 , Yannis Duffourd  1   3 , Christophe Philippe  1   3 , François Feillet  13 , Laurence Faivre  1   2   3 , Christel Thauvin-Robinet  1   3   15
Affiliations
Review

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

Julian Delanne et al. Mol Genet Metab Rep. .

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.

Synopsis: Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.

Keywords: Developmental delay; Exome sequencing; Genotype first; Inherited metabolic disorders; Intellectual disability.

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Conflict of interest statement

The authors declare no conflicts of interest.

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