2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Considerations of Genetic Testing in Autism Spectrum Disorder: Lessons learned from 10 years of experience in Mexico

Pdf Summary

This study aimed to evaluate the role of exome sequencing (ES) in the genetic diagnosis of autism spectrum disorder (ASD) in a cohort of Mexican patients. The study included 226 patients with confirmed ASD, and various genetic tests were performed. The study found that ES with copy number variant (CNV) analysis had a higher diagnostic yield compared to other genetic tests used in the past. The study also showed that ES as a first-tier test was cost-effective for Mexican patients with ASD. Recent guidelines recommend ES as the first tool for genetic diagnosis in patients with intellectual disability or developmental delay, and the findings from this study suggest that ASD might also be considered in these guidelines for early genetic diagnosis. The study identified several genetic variants associated with ASD, including variants in genes such as CNTNAP2, CSNK2A1, SYNGAP1, FOXP2, CHD8, GRIN2A, SCN2A, CHD3, KCNMA1, and PCDH19. These variants were classified as pathogenic or potentially pathogenic, with some showing autosomal dominant inheritance. The study also identified several copy number variants (CNVs) associated with ASD. Importantly, ES was able to detect all the CNVs identified by traditional chromosomal microarray (CMA) testing. The study highlights the challenges in the genetic approach to ASD in countries like Mexico, including high costs and lack of reimbursement and access to genetic testing. Overall, ES with CNV analysis proves to be a valuable tool for the genetic diagnosis of ASD in this cohort of Mexican patients.

Asset Subtitle

Presenting Author - Gilda Garza-Mayen, MD, MS; Co-Author - Carlos Diaz, Medical Student; Co-Author - Beatriz Romo-Pardo, MD; Co-Author - Raul E Piña-Aguilar, MD, PhD; Co-Author - Eva Ramirez, Chem.; Co-Author - Dora Mayen-Molina, MD, MS, PhD; Co-Author - Gabriela Arenas, MD; Co-Author - Nancy Carrizosa, MD; Co-Author - Alejandro Olmos López, MD; Co-Author - Gabriela Rivera, Chem.; Co-Author - Carlos Juaristi-Manrique, MD; Co-Author - Saul Garza-Morales, MD, PhD;

Meta Tag

Cognitive Disorders

Exome sequencing

Genetic Testing

Intellectual disability

NextGen Sequencing

Sequencing

Co-Author Carlos Diaz, Medical Student

Co-Author Beatriz Romo-Pardo, MD

Co-Author Raul E Piña-Aguilar, MD, PhD

Co-Author Eva Ramirez, Chem.

Co-Author Dora Mayen-Molina, MD, MS, PhD

Co-Author Gabriela Arenas, MD

Co-Author Nancy Carrizosa, MD

Co-Author Alejandro Olmos López, MD

Co-Author Gabriela Rivera, Chem.

Co-Author Carlos Juaristi-Manrique, MD

Co-Author Saul Garza-Morales, MD, PhD

Presenting Author Gilda Garza-Mayen, MD, MS

Keywords

exome sequencing

genetic diagnosis

autism spectrum disorder

Mexican patients

copy number variant analysis

diagnostic yield

cost-effective

intellectual disability

developmental delay

genetic variants