Copy number variations (CNVs) have been implied in the etiology of autism spectrum disorder (ASD), and microarray-based techniques are performed as a first-step genetic test. Our aim was to present clinical features and CNV profiles of patients with ASD and their parents. Array-CGH was applied to detect CNVs. Previously as likely pathogenic reported duplications were detected at 16p13.11 and 11p15.2p15.1. Other variants were found in 16p11.2p11.1, 3p14.2, 15q11.2, 10q11.22, 3p26.3, 4q13.3, 22q13.32q13.33, and 1q44 and were classified as variants of unknown significance. Deletion of the FHIT gene was associated with the regression of language and social skills without mental impairment. Paternal inheritance of difficulty in social skills and the FHIT gene was documented. In addition, varying olfactory receptor family genes were implicated in de novo and hereditary CNVs. In this study, we aimed to present the clinical characteristics of the cases and parents in more detail, especially in pathogenic CNV cases, which enables us to increase our knowledge on inherited CNVs and genotype-phenotype correlation. We suggest that both genetic and psychiatric evaluation of the parents of the cases is important for better understanding the clinical relevance of the CNV results.
Mol Syndromol

中文翻译：

---

拷贝数变异和 FHIT 基因对自闭症谱系障碍病例表型特征的影响

拷贝数变异 (CNV) 已隐含在自闭症谱系障碍 (ASD) 的病因学中，并且基于微阵列的技术被用作第一步基因测试。我们的目的是展示 ASD 患者及其父母的临床特征和 CNV 概况。Array-CGH 用于检测 CNV。以前在 16p13.11 和 11p15.2p15.1 检测到可能的致病重复。在 16p11.2p11.1、3p14.2、15q11.2、10q11.22、3p26.3、4q13.3、22q13.32q13.33 和 1q44 中发现了其他变体，并被归类为意义不明的变体。FHIT基因的缺失与语言和社交技能的退化有关，而没有精神障碍。社交技能困难的父系遗传和FHIT基因被记录在案。此外，不同的嗅觉受体家族基因与新发和遗传性 CNV 相关。在这项研究中，我们旨在更详细地介绍病例和父母的临床特征，特别是在致病性 CNV 病例中，这使我们能够增加我们对遗传性 CNV 和基因型-表型相关性的了解。我们建议对病例父母的遗传和精神病学评估对于更好地理解 CNV 结果的临床相关性很重要。
摩尔综合征