Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.
Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.
复制标题
自闭症谱系障碍患者 CHL1 基因的新型微重复：病例报告和简要文献综述
DOI：
10.1186/s13039-016-0261-9
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发表时间：
2016
影响因子：
1.3
通讯作者：
Xu X
中科院分区：
文献类型：
--
作者：
Li C;Liu C;Zhou B;Hu C;Xu X
细胞黏附分子L1样蛋白(CHL1或CALL)基因位于染色体3p26.3上，在中枢和外周神经系统中高表达。该基因编码的蛋白质是神经细胞黏附分子L1家族的成员，在神经系统发育和突触可塑性中发挥作用。此外，对小鼠的研究表明，CHL1是一种对剂量敏感的常染色体智力低下的首选候选基因。到目前为止，已有文献报道了4例存在微缺失的患者和2例仅包含CHL1基因的3p26.3微复制患者。在目前的研究中，我们描述了一名16个月大的男孩，患有自闭症谱系障碍(ASD)、发育迟缓和轻微的面部畸形。这是首次报道在ASD患者中存在仅包括CHL1基因的3p26.3重复，该重复是迄今为止报道的该基因中最小的重复。我们还回顾了CHL1基因突变的案例，并检查了该基因是否在认知功能中发挥重要作用。我们得出结论，CHL1缺失和复制都可能是患者认知功能受损的原因，CHL1可能是一个有趣的ASD候选基因。
The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of the L1 family of neural cell adhesion molecules, and it plays a role in nervous system development and synaptic plasticity. Moreover, studies of mice have revealed that CHL1 is a prime candidate gene for a dosage-sensitive autosomal form of mental retardation. To date, four patients with a microdeletion and two with a microduplication of 3p26.3 encompassing only the CHL1 gene have been reported in literature. In the present study, we have described a 16-month-old boy with autism spectrum disorder (ASD), developmental delay and minor dysmorphic facial features. This is the first report of a duplication of 3p26.3 including only the CHL1 gene in an ASD patient, and this duplication is the smallest reported to date in this gene. We also reviewed CHL1 gene mutation cases and examined whether this gene has an important role in cognitive function. We conclude that both CHL1 deletions and duplications are likely responsible for the patient’s impaired cognitive function, and CHL1 may be an intriguing ASD candidate gene.