Clinical and Genetic Findings in Autism Spectrum Disorders Analyzed Using Exome Sequencing

Overview

Journal Front Psychiatry

Specialty Psychiatry

Date 2025 Mar 12

PMID 40071278

Authors

Ana Blazquez

Laia Rodriguez-Revenga

Maria I Alvarez-Mora

Rosa Calvo

Affiliations

Soon will be listed here.

Abstract

Methods: In the present study, CMA was first used to scan for genome-wide copy number variants in the patient, and no clinically significant copy number variants were found. Exome sequencing (ES) was used for further genetic testing.

Results: ES was performed on 20 subjects. Eighty percent of our sample presented intellectual disability. Other co-occurring clinical conditions included speech disorders, psychomotor delay, the presence of dysmorphic features and medical co-morbidities. A pathogenic variant was identified in 10 patients (, , , , NR4A2, and ). Patients with a positive finding in ES were more likely to present a dysmorphic trunk, more than three dysmorphic features, hypotonia, psychomotor delay and strabismus.

Conclusions: ES offers expanded diagnostic options for patients with ASD who are negative on CMA. However, further studies are needed for a better understanding of ASD etiology and also the different phenotypes.

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