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与自闭症和妥瑞氏症相关的NLGN4基因家族性缺失。

Familial deletion within NLGN4 associated with autism and Tourette syndrome.

作者信息

Lawson-Yuen Amy, Saldivar Juan-Sebastian, Sommer Steve, Picker Jonathan

机构信息

Department of Genetics, Children's Hospital Boston, Boston, MA 02115, USA.

出版信息

Eur J Hum Genet. 2008 May;16(5):614-8. doi: 10.1038/sj.ejhg.5202006. Epub 2008 Jan 30.

Abstract

Neuroligin 4 (NLGN4) is a member of a cell adhesion protein family that appears to play a role in the maturation and function of neuronal synapses. Mutations in the X-linked NLGN4 gene are a potential cause of autistic spectrum disorders, and mutations have been reported in several patients with autism, Asperger syndrome, and mental retardation. We describe here a family with a wide variation in neuropsychiatric illness associated with a deletion of exons 4, 5, and 6 of NLGN4. The proband is an autistic boy with a motor tic. His brother has Tourette syndrome and attention deficit hyperactivity disorder. Their mother, a carrier, has a learning disorder, anxiety, and depression. This family demonstrates that NLGN4 mutations can be associated with a wide spectrum of neuropsychiatric conditions and that carriers may be affected with milder symptoms.

摘要

神经连接蛋白4(NLGN4)是细胞粘附蛋白家族的成员之一,似乎在神经元突触的成熟和功能中发挥作用。X连锁的NLGN4基因突变是自闭症谱系障碍的一个潜在病因,并且在一些自闭症、阿斯伯格综合征和智力障碍患者中已报道有该基因突变。我们在此描述一个家族,其神经精神疾病存在广泛差异,与NLGN4基因的外显子4、5和6缺失有关。先证者是一名患有运动性抽动的自闭症男孩。他的哥哥患有妥瑞氏综合征和注意力缺陷多动障碍。他们的母亲作为携带者,有学习障碍、焦虑和抑郁症状。这个家族表明NLGN4基因突变可能与广泛的神经精神疾病相关,并且携带者可能会出现较轻的症状。

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