Clinical and neurobehavioral phenotype in children with autism and intragenic copy number duplications in CNTN4: Case series report

IF 2.2 4区医学 Q1 EDUCATION, SPECIAL

Research in Autism Spectrum Disorders Pub Date : 2024-04-30 DOI:10.1016/j.rasd.2024.102399

Watfa Al-Mamari , Ahmed B. Idris , Najat Fadlallah , Saquib Jalees , Muna Al-Jabri , Al-Mundher Al-Maawali , Abeer Alsayegh

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引用次数: 0

Abstract

Copy Number Variation (CNV) of contactin genes (CNTNs) - CNTN3, CNTN4, CNTN5, and CNTN6 - have been associated with various neurodevelopmental disorders, including Autism Spectrum Disorder (ASD). However, the literature on the associated phenotypes to specific copy number variants of these genes is still scarce. Therefore, limiting clinicians' and researchers' understanding of the impact of these CNVs makes genetic counselling regarding recurrence risks more challenging. In this study, we report on five patients with rare CNVs involving the CNTN4 gene and the associated clinical and neurobehavioral phenotype. Overall, the patients exhibited stereotypic motor symptoms, including finger and hand mannerisms (4/5), and repetitive use of objects (4/5), as well as sensory symptoms, including unusual sensory interests or hypersensitivity (4/5). One child of the cohort had epilepsy, and (4/5) had Intellectual Disability. All cases fulfilled DSM-5 criteria for diagnosis of Autism Spectrum Disorder (ASD). However, larger cohorts are needed for unbiased characterization of the phenotypic features associated with the genetic variations in CNTN4.

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自闭症儿童的临床和神经行为表型与 CNTN4 基因内拷贝数重复：病例系列报告

接触素基因（CNTNs）--CNTN3、CNTN4、CNTN5 和 CNTN6--的拷贝数变异（CNV）与包括自闭症谱系障碍（ASD）在内的各种神经发育障碍有关。然而，有关这些基因的特定拷贝数变异的相关表型的文献仍然很少。因此，临床医生和研究人员对这些 CNV 影响的了解有限，使得有关复发风险的遗传咨询更具挑战性。在本研究中，我们报告了五名患有 CNTN4 基因罕见 CNV 的患者及其相关的临床和神经行为表型。总体而言，患者表现出刻板的运动症状，包括手指和手的举止（4/5）和重复使用物品（4/5），以及感觉症状，包括异常感觉兴趣或感觉过敏（4/5）。队列中有一名儿童患有癫痫，4/5 的儿童患有智力障碍。所有病例均符合 DSM-5 自闭症谱系障碍 (ASD) 的诊断标准。然而，要对与 CNTN4 基因变异相关的表型特征进行无偏见的描述，还需要更大规模的队列。

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

Research in Autism Spectrum Disorders Multiple-

CiteScore

4.20

自引率

8.00%

发文量

108

期刊介绍： Research in Autism Spectrum Disorders (RASD) publishes high quality empirical articles and reviews that contribute to a better understanding of Autism Spectrum Disorders (ASD) at all levels of description; genetic, neurobiological, cognitive, and behavioral. The primary focus of the journal is to bridge the gap between basic research at these levels, and the practical questions and difficulties that are faced by individuals with ASD and their families, as well as carers, educators and clinicians. In addition, the journal encourages submissions on topics that remain under-researched in the field. We know shamefully little about the causes and consequences of the significant language and general intellectual impairments that characterize half of all individuals with ASD. We know even less about the challenges that women with ASD face and less still about the needs of individuals with ASD as they grow older. Medical and psychological co-morbidities and the complications they bring with them for the diagnosis and treatment of ASD represents another area of relatively little research. At RASD we are committed to promoting high-quality and rigorous research on all of these issues, and we look forward to receiving many excellent submissions.