Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder.

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2024-07-04 eCollection Date: 2024-12-01 DOI:10.1055/s-0044-1788031
Yi Juan Huang, Rong Pu Jia, Yuan Qiu Chen, Liang Ji Zhou, Chen Yu Gou, Mei Qiong Fan, Si Li, Maofa Chen, Hua Ming Lin, Yu Gao
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Abstract

Chromosomal sub-microscopic imbalances, such as microdeletions and microduplications, are associated with multiple genetic disorders. Here, we illustrate microdeletion 3q13.33q21.2 might be responsible for neurodevelopmental disorder in two patients. There are two patients with neurodevelopmental disorder in a family of seven. We used chromosomal microarray analysis to identify the microdeletion 3q13.33q21.2. Next-generation sequencing was utilized to exclude the presence of allelic mutations within the microdeletion region 3q13.33q21.2, which may have a potential role in the development of disease in patients affected with secondary genetic alterations. Patient 4 was diagnosed with dilated left third ventricle, neurodevelopmental disorder, and mild abnormalities in electroencephalogram through a series of clinical examinations. Patient 6 was diagnosed with attention deficit hyperactivity disorder, short stature, intellectual disability, and concurrent epilepsy. By investigating the 3q13.33q21.2 band of the University of California, Santa Cruz database, we screened out the genes related to developmental delay and intellectual disability, including ADCY5 SEMA5B andKPNA1, which were highly suspected to be related to intelligence. This region also involves CASR, a gene that has been reported to be associated with epilepsy. The ADCY5 and SEMA5B genes may be key genes to cause neurodevelopmental disorder. Abnormal expression of the CASR gene may lead to the occurrence of epilepsy.

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微缺失 3q13.33-3q21.2:神经发育障碍的罕见病因
染色体亚显微失衡(如微缺失和微重复)与多种遗传疾病有关。在此,我们说明 3q13.33q21.2 微缺失可能是导致两名患者神经发育障碍的原因。在一个七口之家中,有两名患者患有神经发育障碍。我们利用染色体微阵列分析确定了微缺失 3q13.33q21.2。我们利用下一代测序技术排除了微缺失区 3q13.33q21.2 中存在的等位基因突变,这些突变可能会对受继发性遗传改变影响的患者的疾病发展产生潜在作用。通过一系列临床检查,患者 4 被诊断为左侧第三脑室扩张、神经发育障碍和脑电图轻度异常。患者 6 被诊断为注意力缺陷多动障碍、身材矮小、智力障碍和并发癫痫。通过研究加州大学圣克鲁斯分校数据库的 3q13.33q21.2 区带,我们筛选出了与发育迟缓和智力障碍相关的基因,包括 ADCY5 SEMA5B 和 KPNA1,这些基因被高度怀疑与智力有关。该区域还涉及 CASR,这是一个据报道与癫痫有关的基因。ADCY5 和 SEMA5B 基因可能是导致神经发育障碍的关键基因。CASR 基因的异常表达可能会导致癫痫的发生。
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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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