Kılıçaslan Fethiye, Öz Özlem, Mutlu Mehmet Burak
Department of Child and Adolescent Psychiatry, Harran University, Şanlıurfa, Türkiye.
Department of Medical Genetics, Harran University, Şanlıurfa, Türkiye.
Int J Dev Neurosci. 2025 Feb;85(1):e10397. doi: 10.1002/jdn.10397. Epub 2024 Nov 30.
This study aimed to identify the chromosomal anomalies and copy number variations (CNVs) in autism spectrum disorder (ASD) and to provide genotype/phenotype correlations. Fifty-four patients diagnosed with ASD between March 2021 and June 2022 were included in the study. Patients were evaluated by cytogenetic analysis and array comparative genomic hybridisation analysis (aCGH). The structural and numerical chromosomal anomaly was detected in 3.7%, and the CNVs were identified in 18.52% of patients. Of the CNVs detected, 27.3% were identified as pathogenic, 18.2% as likely pathogenic and 54.5% as VUS. The copy number gain rate of the detected CNVs was higher than the copy number losses rate, 70% and 30% respectively. As an important finding in the study, a new pathogenic CNV with a 6.3-mb copy number gain in the 3p22.3p22.2 region, whose gene region had not been previously defined in OMIM, was detected. Identifying a genetic aetiology may provide clinicians with more information about disease prognosis and risk of recurrence.
本研究旨在识别自闭症谱系障碍（ASD）中的染色体异常和拷贝数变异（CNV），并提供基因型/表型相关性。2021年3月至2022年6月期间诊断为ASD的54例患者纳入本研究。患者接受了细胞遗传学分析和阵列比较基因组杂交分析（aCGH）。3.7%的患者检测到结构和数量染色体异常，18.52%的患者识别出CNV。在检测到的CNV中，27.3%被鉴定为致病性，18.2%可能致病，54.5%为意义未明变异（VUS）。检测到的CNV的拷贝数增加率高于拷贝数丢失率，分别为70%和30%。作为该研究的一项重要发现，在3p22.3p22.2区域检测到一个新的致病性CNV，其拷贝数增加6.3 Mb，该基因区域在《在线人类孟德尔遗传》（OMIM）中此前未被定义。确定遗传病因可能为临床医生提供更多关于疾病预后和复发风险的信息。
