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Title: Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Author: Álvarez-Mora, María Isabel
Sánchez, Aurora
Rodríguez-Revenga, Laia
Corominas, Jordi
Rabionet Janssen, Raquel
Puig i Sardà, Susana
Madrigal, Irene
Keywords: Trastorns del desenvolupament
Malalties hereditàries
Developmental disabilities
Genetic diseases
Issue Date: 19-Feb-2022
Publisher: BioMed Central
Abstract: Background: Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These diseases are highly heterogeneous and both genetic and environmental factors play an important role in many of them. The introduction of next generation sequencing (NGS) has lead to the detection of genetic variants in several genetic diseases. The main aim of this report is to discuss the impact and advantages of the implementation of NGS in the diagnosis of NDDs. Herein, we report diagnostic yields of applying whole exome sequencing in 87 families afected by NDDs and additional data of whole genome sequencing (WGS) from 12 of these families. Results: The use of NGS technologies allowed identifying the causative gene alteration in approximately 36% (31/87) of the families. Among them, de novo mutation represented the most common cause of genetic alteration found in 48% (15/31) of the patients with diagnostic mutations. The majority of variants were located in known neurodevelop‑ mental disorders genes. Nevertheless, some of the diagnoses were made after the use of GeneMatcher tools which allow the identifcation of additional patients carrying mutations in THOC2, SETD1B and CHD9 genes. Finally the use of WGS only allowed the identifcation of disease causing variants in 8% (1/12) of the patients in which previous WES failed to identify a genetic aetiology. Conclusion: NGS is more powerful in identifying causative pathogenic variant than conventional algorithms based on chromosomal microarray as frst-tier test. Our results reinforce the implementation of NGS as a frst-test in genetic diagnosis of NDDs.
Note: Reproducció del document publicat a:
It is part of: Orphanet Journal of Rare Diseases, 2022, vol. 17, num. 60, p. 1-10
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ISSN: 1750-1172
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

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