Comorbidities associated with genetic abnormalities in children with intellectual disability

Abstract Intellectual disability (ID) has emerged as the commonest manifestation of underlying genomic abnormalities. Given that molecular genetic tests for diagnosis of ID usually require high costs and yield relatively low diagnostic rates, identification of additional phenotypes or comorbidities...

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Autores principales:	Jia-Shing Chen, Wen-Hao Yu, Meng-Che Tsai, Pi-Lien Hung, Yi-Fang Tu
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/7bbe27bda6cc406c9168ccb237c69e8a
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spelling	oai:doaj.org-article:7bbe27bda6cc406c9168ccb237c69e8a2021-12-02T14:02:54ZComorbidities associated with genetic abnormalities in children with intellectual disability10.1038/s41598-021-86131-32045-2322https://doaj.org/article/7bbe27bda6cc406c9168ccb237c69e8a2021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-86131-3https://doaj.org/toc/2045-2322Abstract Intellectual disability (ID) has emerged as the commonest manifestation of underlying genomic abnormalities. Given that molecular genetic tests for diagnosis of ID usually require high costs and yield relatively low diagnostic rates, identification of additional phenotypes or comorbidities may increase the genetic diagnostic yield and are valuable clues for pediatricians in general practice. Here, we enrolled consecutively 61 children with unexplained moderate or severe ID and performed chromosomal microarray (CMA) and sequential whole-exome sequencing (WES) analysis on them. We identified 13 copy number variants in 12 probands and 24 variants in 25 probands, and the total diagnostic rate was 60.7%. The genetic abnormalities were commonly found in ID patients with movement disorder (100%) or with autistic spectrum disorder (ASD) (93.3%). Univariate analysis showed that ASD was the significant risk factor of genetic abnormality (P = 0.003; OR 14, 95% CI 1.7–115.4). At least 14 ID-ASD associated genes were identified, and the majority of ID-ASD associated genes (85.7%) were found to be expressed in the cerebellum based on database analysis. In conclusion, genetic testing on ID children, particularly in those with ASD is highly recommended. ID and ASD may share common cerebellar pathophysiology.Jia-Shing ChenWen-Hao YuMeng-Che TsaiPi-Lien HungYi-Fang TuNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Jia-Shing Chen Wen-Hao Yu Meng-Che Tsai Pi-Lien Hung Yi-Fang Tu Comorbidities associated with genetic abnormalities in children with intellectual disability
description	Abstract Intellectual disability (ID) has emerged as the commonest manifestation of underlying genomic abnormalities. Given that molecular genetic tests for diagnosis of ID usually require high costs and yield relatively low diagnostic rates, identification of additional phenotypes or comorbidities may increase the genetic diagnostic yield and are valuable clues for pediatricians in general practice. Here, we enrolled consecutively 61 children with unexplained moderate or severe ID and performed chromosomal microarray (CMA) and sequential whole-exome sequencing (WES) analysis on them. We identified 13 copy number variants in 12 probands and 24 variants in 25 probands, and the total diagnostic rate was 60.7%. The genetic abnormalities were commonly found in ID patients with movement disorder (100%) or with autistic spectrum disorder (ASD) (93.3%). Univariate analysis showed that ASD was the significant risk factor of genetic abnormality (P = 0.003; OR 14, 95% CI 1.7–115.4). At least 14 ID-ASD associated genes were identified, and the majority of ID-ASD associated genes (85.7%) were found to be expressed in the cerebellum based on database analysis. In conclusion, genetic testing on ID children, particularly in those with ASD is highly recommended. ID and ASD may share common cerebellar pathophysiology.
format	article
author	Jia-Shing Chen Wen-Hao Yu Meng-Che Tsai Pi-Lien Hung Yi-Fang Tu
author_facet	Jia-Shing Chen Wen-Hao Yu Meng-Che Tsai Pi-Lien Hung Yi-Fang Tu
author_sort	Jia-Shing Chen
title	Comorbidities associated with genetic abnormalities in children with intellectual disability
title_short	Comorbidities associated with genetic abnormalities in children with intellectual disability
title_full	Comorbidities associated with genetic abnormalities in children with intellectual disability
title_fullStr	Comorbidities associated with genetic abnormalities in children with intellectual disability
title_full_unstemmed	Comorbidities associated with genetic abnormalities in children with intellectual disability
title_sort	comorbidities associated with genetic abnormalities in children with intellectual disability
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/7bbe27bda6cc406c9168ccb237c69e8a
work_keys_str_mv	AT jiashingchen comorbiditiesassociatedwithgeneticabnormalitiesinchildrenwithintellectualdisability AT wenhaoyu comorbiditiesassociatedwithgeneticabnormalitiesinchildrenwithintellectualdisability AT mengchetsai comorbiditiesassociatedwithgeneticabnormalitiesinchildrenwithintellectualdisability AT pilienhung comorbiditiesassociatedwithgeneticabnormalitiesinchildrenwithintellectualdisability AT yifangtu comorbiditiesassociatedwithgeneticabnormalitiesinchildrenwithintellectualdisability
_version_	1718392090286620672

Comorbidities associated with genetic abnormalities in children with intellectual disability

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