Department of Organi di Senso, University of Rome 'Sapienza', Italy.
Eur Neurol. 2011;65(5):264-9. doi: 10.1159/000327307. Epub 2011 Apr 8.
Deletions in the distal region of the short arm of chromosome 1 (1p36) are widely diffuse, both as somatic abnormalities in tumors and as constitutive in the congenital 1p36 deletion syndrome. The deletion size varies from 1.5 to 10 Mb, with common breakpoints located from 1p36.13 to 1p36.33. Patients bearing constitutional deletion of a smaller region, 1p36.3, present with a number of features, including mental retardation. The gene PLCH2, codifying for the phosphoinositide-specific phospholipase C (PI-PLC) η2, maps on the 1p36.32 region. PI-PLC η2, expressed in the brain after birth, is a key enzyme in cellular calcium mobilization. In the brain, calcium plays a role in axon growth and retraction, growth cone guidance, synapse formation, and responses to various neurotransmitters. For its role in the nervous system, PI-PLC η2 might be a putative candidate gene for the neurodevelopmental delay observed in patients bearing 1p36.3 deletions.
1 号染色体短臂远端（1p36）缺失广泛存在，既存在于肿瘤的体细胞异常中，也存在于先天性 1p36 缺失综合征的构成性缺失中。缺失大小从 1.5 到 10Mb 不等，常见的断裂点位于 1p36.13 到 1p36.33。携带较小区域（1p36.3）的构成性缺失的患者具有多种特征，包括智力迟钝。编码磷酸肌醇特异性磷脂酶 C（PI-PLC）η2 的 PLCH2 基因位于 1p36.32 区域。PI-PLC η2 在出生后大脑中表达，是细胞钙动员的关键酶。在大脑中，钙在轴突生长和回缩、生长锥导向、突触形成以及对各种神经递质的反应中发挥作用。由于其在神经系统中的作用，PI-PLC η2 可能是携带 1p36.3 缺失的患者观察到的神经发育迟缓的潜在候选基因。
