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

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

<i>Background and Objectives</i>: 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. <i>Materials and Methods&l...

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Main Authors: Vittoria Greco, Donatella Greco, Simone Treccarichi, Maria Bottitta, Pinella Failla, Antonino Musumeci, Carla Papa, Valeria Chiavetta, Francesco Calì, Mirella Vinci
Format: Article
Language:English
Published: MDPI AG 2025-07-01
Series:Medicina
Subjects:
target genetic panel
next-generation sequencing
SFARI database
novel variant identification
Online Access:https://www.mdpi.com/1648-9144/61/7/1273
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Summary:<i>Background and Objectives</i>: 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. <i>Materials and Methods</i>: 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. <i>Results</i>: 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 (<i>POGZ</i> 2 variants, <i>NCOR1</i>, <i>CHD2</i>, <i>ADNP</i>, and <i>GRIN2B</i>), including two variants of uncertain significance in <i>POGZ</i> p.Thr451Met and <i>NCOR1</i> p.Glu1137Lys, one likely pathogenic variant in <i>GRIN2B</i> p.Leu714Gln, and three pathogenic variants in <i>POGZ</i> p.Leu775Valfs32, <i>CHD2</i> p.Thr1108Metfs8, and <i>ADNP</i> p.Pro5Argfs*2. <i>Conclusions</i>: 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.
ISSN:1010-660X
1648-9144

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