Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.

Researchers tested 53 people with autism using a genetic test that looks at 74 specific genes linked to autism. They found concerning genetic changes in 9 people (about 1 in 6). Six completely new genetic changes were discovered in important autism-related genes. This helps doctors better understand the genetic causes of autism and may improve future genetic testing.

This study evaluated a customized 74-gene panel for genetic testing in 53 individuals with autism spectrum disorder (ASD). Researchers identified 102 rare variants, with 9 individuals (17%) carrying likely pathogenic or pathogenic variants. Six de novo variants were found across five genes (CHD8, GABRB2, MYT1L, SCN2A, and SHANK3), including pathogenic variants in SCN2A and SHANK3. The study contributed novel variant data to ClinVar database, expanding known mutational patterns in ASD-associated genes.

While the targeted panel approach provided diagnostic insights, the authors acknowledged limitations compared to broader genomic approaches.

Supports use of targeted genetic panels in ASD diagnosis with 17% diagnostic yield. Identifies specific genes for clinical monitoring. Contributes to genetic counseling resources through ClinVar submissions.

Small sample size of 53 individuals limits generalizability. Authors acknowledged diagnostic limitations of targeted panel approach compared to comprehensive genomic methods. Study design unclear from abstract.

: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that belong to genetic and epigenetic mechanism. Despite the recent advantages in next-generation sequencing (NGS) technology, ASD etiology is still unclear.: In this study, we tested a customized target genetic panel consisting of 74 genes in a cohort of 53 ASD individuals. The tested panel was designed from the SFARI database.: Among 53 patients analyzed using a targeted genetic panel, 102 rare variants were identified, with nine individuals carrying likely pathogenic or pathogenic variants considered genetically "positive." We identified six de novo variants across five genes (2 variants,,,, and), including two variants of uncertain significance inp.Thr451Met andp.Glu1137Lys, one likely pathogenic variant inp.Leu714Gln, and three pathogenic variants inp.Leu775Valfs32,p.Thr1108Metfs8, andp.Pro5Argfs*2.: This study presents a comprehensive characterization of the targeted gene panel used for genetic analysis, while critically evaluating its diagnostic limitations within the context of contemporary genomic approaches. A pivotal accomplishment of this study was the ClinVar submission of novel de novo variants which expands the documented mutational spectrum of ASD-associated genes and enhances future diagnostic interpretation.