학술논문
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders
Document Type
article
Author
Julian Delanne; Ange-Line Bruel; Frédéric Huet; Sébastien Moutton; Sophie Nambot; Margot Grisval; Nada Houcinat; Paul Kuentz; Arthur Sorlin; Patrick Callier; Nolwenn Jean-Marcais; Anne-Laure Mosca-Boidron; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Daphné Lehalle; Salima El Chehadeh; Christine Francannet; Marine Lebrun; Laetitia Lambert; Marie-Line Jacquemont; Marion Gerard-Blanluet; Jean-Luc Alessandri; Marjolaine Willems; Julien Thevenon; Mondher Chouchane; Véronique Darmency; Clémence Fatus-Fauconnier; Sébastien Gay; Marie Bournez; Alice Masurel; Vanessa Leguy; Yannis Duffourd; Christophe Philippe; François Feillet; Laurence Faivre; Christel Thauvin-Robinet
Source
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)
Subject
Language
English
ISSN
2214-4269
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.