Hemizygosity of δ-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome
Hemizygosity of δ-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome
复制标题
DOI：
10.1006/geno.1999.6090
复制
发表时间：
2000-01-15
期刊：
影响因子：
4.4
通讯作者：
Kosik, KS
中科院分区：
文献类型：
--
作者：
Medina, M;Marinescu, RC;Kosik, KS
连环蛋白是一种粘附连接蛋白，参与细胞运动，并在神经元发育早期表达。它被发现与早老素-1相互作用。人类delta-catenin基因（人类基因命名委员会批准的符号CTNND2）的基因组结构被确定并定位于5p15.2，该染色体区域的缺失与cri-du-chat综合征（CDCS）有关，这是一种5p的节段性解剖学综合征，与出生时不寻常的高音哭声、面部畸形、生长不良和严重的智力迟钝有关。delta-catenin定位于5p15.2的一个特定区域，该区域与智力低下表型有关。5p末端缺失患者的断点与智力低下的严重程度和delta-catenin基因的物理位置有关。delta-连环蛋白的半合子缺失与严重的智力低下有很强的相关性。这些发现和delta-连环蛋白作为一种神经元特异性蛋白的特性，在发育早期表达并参与细胞运动，支持其在仅存在一个拷贝时在CDCS智力迟钝中的作用。(C) 2000年学术出版社。
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. (C) 2000 Academic Press.