21q21 deletion involving NCAM2: Report of 3 cases with neurodevelopmental disorders
21q21 deletion involving NCAM2: Report of 3 cases with neurodevelopmental disorders
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DOI：
10.1016/j.ejmg.2014.11.004
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发表时间：
2015-01-01
影响因子：
1.9
通讯作者：
Andrieux, Joris
中科院分区：
文献类型：
--
作者：
Petit, Florence;Plessis, Ghislaine;Andrieux, Joris
在此，我们报告了三名患有神经发育障碍且携带涉及 NCAM2 基因的 21q21 缺失的患者。 NCAM（神经细胞粘附分子）蛋白参与轴突迁移、突触形成和可塑性。在 NCAM2 缺陷的动物模型中观察到轴突生长不良和束颤。此外，根据全基因组关联研究，该基因已被提议作为自闭症的候选基因。在本报告中，我们提供了三个缺失病例的全面分子和表型特征，为 NCAM2 参与神经发育提供了更多线索。 (C) 2014 年 Elsevier Masson SAS。版权所有。
Here we report three patients affected with neurodevelopmental disorders and harbouring 21q21 deletions involving NCAM2 gene. NCAM (Neural Cell Adhesion Molecule) proteins are involved in axonal migration, synaptic formation and plasticity. Poor axonal growth and fasciculation is observed in animal models deficient for NCAM2. Moreover, this gene has been proposed as a candidate for autism, based on genome-wide association studies. In this report, we provide a comprehensive molecular and phenotypical characterisation of three deletion cases giving additional clues for the involvement of NCAM2 in neurodevelopment. (C) 2014 Elsevier Masson SAS. All rights reserved.