Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
ORVAL
attention deficit disorder and hyperactivity
autism spectrum disorder
gut motility disorders
oligenic disease
sleep disturbance
whole exome sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
03
11
2020
accepted:
19
01
2021
entrez:
8
3
2021
pubmed:
9
3
2021
medline:
9
3
2021
Statut:
epublish
Résumé
Autism Spectrum Disorder (ASD) refers to a broad range of conditions characterized by difficulties in communication, social interaction and behavior, and may be accompanied by other medical or psychiatric conditions. Patients with ASD and comorbidities are often difficult to diagnose because of the tendency to consider the multiple symptoms as the presentation of a complicated syndromic form. This view influences variant filtering which might ignore causative variants for specific clinical features shown by the patient. Here we report on a male child diagnosed with ASD, showing cognitive and motor impairments, stereotypies, hyperactivity, sleep, and gastrointestinal disturbances. The analysis of whole exome sequencing (WES) data with bioinformatic tools for oligogenic diseases helped us to identify two major previously unreported pathogenetic variants: a maternally inherited missense variant (p.R4122H) in
Identifiants
pubmed: 33679889
doi: 10.3389/fgene.2021.625564
pmc: PMC7930735
doi:
Types de publication
Case Reports
Langues
eng
Pagination
625564Informations de copyright
Copyright © 2021 Cerminara, Spirito, Pisciotta, Squillario, Servetti, Divizia, Lerone, Berloco, Boeri, Nobili, Vozzi, Sanges, Gustincich and Puliti.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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