Investigation of chromosomal anomalies and copy number variations in children diagnosed with autism spectrum disorder by array CGH method

IF 1.7 4区医学 Q3 DEVELOPMENTAL BIOLOGY

International Journal of Developmental Neuroscience Pub Date : 2024-11-30 DOI:10.1002/jdn.10397

Fethiye Kılıçaslan, Özlem Öz, Mehmet Burak Mutlu

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Abstract

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.

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阵列CGH法研究自闭症谱系障碍患儿染色体异常及拷贝数变异。

本研究旨在确定自闭症谱系障碍（ASD）的染色体异常和拷贝数变异（CNVs），并提供基因型/表型相关性。在2021年3月至2022年6月期间，54名被诊断为ASD的患者被纳入了这项研究。通过细胞遗传学分析和阵列比较基因组杂交分析（aCGH）对患者进行评估。3.7%的患者检测到结构和数字染色体异常，18.52%的患者检测到CNVs。在检测到的CNVs中，27.3%被鉴定为致病性，18.2%被鉴定为可能致病性，54.5%被鉴定为VUS。检测到的CNVs拷贝数增益率高于拷贝数损失率，分别为70%和30%。作为本研究的重要发现，在3p22.3p22.2区域检测到一种新的致病性CNV，其拷贝数增加6.3 mb，该基因区域此前未在OMIM中定义。确定遗传病因可以为临床医生提供更多关于疾病预后和复发风险的信息。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of Developmental Neuroscience 医学-发育生物学

CiteScore

3.30

自引率

5.60%

发文量

审稿时长

6-12 weeks

期刊介绍： International Journal of Developmental Neuroscience publishes original research articles and critical review papers on all fundamental and clinical aspects of nervous system development, renewal and regeneration, as well as on the effects of genetic and environmental perturbations of brain development and homeostasis leading to neurodevelopmental disorders and neurological conditions. Studies describing the involvement of stem cells in nervous system maintenance and disease (including brain tumours), stem cell-based approaches for the investigation of neurodegenerative diseases, roles of neuroinflammation in development and disease, and neuroevolution are also encouraged. Investigations using molecular, cellular, physiological, genetic and epigenetic approaches in model systems ranging from simple invertebrates to human iPSC-based 2D and 3D models are encouraged, as are studies using experimental models that provide behavioural or evolutionary insights. The journal also publishes Special Issues dealing with topics at the cutting edge of research edited by Guest Editors appointed by the Editor in Chief. A major aim of the journal is to facilitate the transfer of fundamental studies of nervous system development, maintenance, and disease to clinical applications. The journal thus intends to disseminate valuable information for both biologists and physicians. International Journal of Developmental Neuroscience is owned and supported by The International Society for Developmental Neuroscience (ISDN), an organization of scientists interested in advancing developmental neuroscience research in the broadest sense.