Medina M, Marinescu R C, Overhauser J, Kosik K S
Department of Neurology, Harvard Medical School and Brigham and Women's Hospital, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA.
Genomics. 2000 Jan 15;63(2):157-64. doi: 10.1006/geno.1999.6090.
Delta-catenin is an adherens junction protein involved in cell motility and expressed early in neuronal development. It was discovered as an interactor with presenilin-1. The genomic structure of the human delta-catenin gene (Human Gene Nomenclature Committee-approved symbol CTNND2) was determined and mapped to 5p15.2. A deletion of this chromosomal region has been associated with the cri-du-chat syndrome (CDCS), a segmental aneusomy syndrome of 5p that is associated with an unusual high-pitched cry at birth, facial dysmorphology, poor growth, and severe mental retardation. delta-catenin maps to a specific region in 5p15.2 that has been implicated in the mental retardation phenotype. The breakpoints in patients with 5p terminal deletions were characterized with respect to the severity of mental retardation and the physical location of the delta-catenin gene. A strong correlation was found between the hemizygous loss of delta-catenin and severe mental retardation. These findings and the properties of delta-catenin as a neuronal-specific protein, expressed early in development and involved in cell motility, support its role in the mental retardation of CDCS when present in only one copy.
δ-连环蛋白是一种参与细胞运动的黏附连接蛋白，在神经元发育早期表达。它最初是作为早老素-1的相互作用蛋白被发现的。人类δ-连环蛋白基因（人类基因命名委员会批准的符号为CTNND2）的基因组结构已被确定，并定位到5p15.2。该染色体区域的缺失与猫叫综合征（CDCS）相关，5p部分单体综合征与出生时异常高音调哭声、面部畸形、生长发育迟缓及严重智力障碍有关。δ-连环蛋白定位于5p15.2的一个特定区域，该区域与智力障碍表型有关。对5p末端缺失患者的断点进行了关于智力障碍严重程度和δ-连环蛋白基因物理位置的特征分析。发现δ-连环蛋白的半合子缺失与严重智力障碍之间存在强相关性。这些发现以及δ-连环蛋白作为一种在发育早期表达且参与细胞运动的神经元特异性蛋白的特性，支持了其在仅以单拷贝存在时在猫叫综合征智力障碍中的作用。
