Petit Florence, Plessis Ghislaine, Decamp Matthieu, Cuisset Jean-Marie, Blyth Moira, Pendlebury Maria, Andrieux Joris
Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU Lille, France; Université Lille Nord de France, Lille, France.
Service de génétique, Hôpital Clémenceau, CHU Caen, France.
Eur J Med Genet. 2015 Jan;58(1):44-6. doi: 10.1016/j.ejmg.2014.11.004. Epub 2014 Nov 20.
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.
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。神经细胞黏附分子（NCAM）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状化。此外，基于全基因组关联研究，该基因已被提出作为自闭症的候选基因。在本报告中，我们对三例缺失病例进行了全面的分子和表型特征分析，为NCAM2参与神经发育提供了更多线索。
