CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.
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14例患者的CNTN6拷贝数变化：神经发育和神经精神疾病的可能候选基因。
DOI：
10.1186/s11689-015-9122-9
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发表时间：
2015
影响因子：
4.9
通讯作者：
Surti U
中科院分区：
文献类型：
--
作者：
Hu J;Liao J;Sathanoori M;Kochmar S;Sebastian J;Yatsenko SA;Surti U
神经发育障碍是影响情绪、学习和记忆的大脑功能障碍。接触蛋白基因(CNTN)的拷贝数变异，包括CNTN3、CNTN4、CNTN5和CNTN6，被认为与这些疾病有关。然而，仅有少数涉及CNT的拷贝数变异患者的表型被报道。从2009年1月至2013年1月，通过匹兹堡大学医学中心确诊的3724例患者被转至我室进行临床阵列比较基因组杂交检测。我们对这群患者进行筛查，以确定涉及CNTN6基因的3p26.3拷贝数变异的个体，然后回顾这些患者的临床信息和家族史，以确定3p26.3拷贝数变异与神经发育障碍之间的关联。3724例患者中有14例存在涉及CNTN6基因的3p26.3拷贝数变异。在14例CNTN6拷贝数变异的患者中，13例表现为各种神经发育障碍，包括发育迟缓、自闭症谱系障碍、癫痫发作和注意缺陷多动障碍。14名患者中有13名有家族病史。13个家庭中有12个家庭的多名成员患有神经发育和神经精神障碍，包括注意力缺陷多动障碍、癫痫、自闭症谱系障碍、智力残疾、精神分裂症、抑郁症、焦虑、学习障碍和躁郁症。我们的发现表明，CNTN6基因的缺失或复制与广泛的神经发育行为障碍有关。
Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders. However, phenotypes have been reported in only a handful of patients with copy number variations involving CNTNs. From January 2009 to January 2013, 3724 patients ascertained through the University of Pittsburgh Medical Center were referred to our laboratory for clinical array comparative genomic hybridization testing. We screened this cohort of patients to identify individuals with the 3p26.3 copy number variations involving the CNTN6 gene, and then retrospectively reviewed the clinical information and family history of these patients to determine the association between the 3p26.3 copy number variations and neurodevelopmental disorders. Fourteen of the 3724 patients had 3p26.3 copy number variations involving the CNTN6 gene. Thirteen of the 14 patients with these CNTN6 copy number variations presented with various neurodevelopmental disorders including developmental delay, autistic spectrum disorders, seizures and attention deficit hyperactivity disorder. Family history was available for 13 of the 14 patients. Twelve of the thirteen families have multiple members with neurodevelopmental and neuropsychiatric disorders including attention deficit hyperactivity disorder, seizures, autism spectrum disorder, intellectual disability, schizophrenia, depression, anxiety, learning disability, and bipolar disorder. Our findings suggest that deletion or duplication of the CNTN6 gene is associated with a wide spectrum of neurodevelopmental behavioral disorders.