Absence of MeCP2 mutations in patients from the South Carolina Autism Project
Absence of MeCP2 mutations in patients from the South Carolina Autism Project
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DOI：
10.1002/ajmg.b.10016
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发表时间：
2003-02-15
影响因子：
2.8
通讯作者：
Michaelis, RC
中科院分区：
文献类型：
--
作者：
Lobo-Menendez, F;Sossey-Alaoui, K;Michaelis, RC
甲基-CpG结合蛋白2（MeCP 2）基因最近被鉴定为负责Rett综合征（RS）的基因，Rett综合征是一种广泛性发育障碍，被许多人认为是自闭症谱系障碍之一。大多数MeCP 2突变的女性患者都表现出RS的典型特征，包括自闭症行为。大多数MeCP 2突变的男性患者表现出中度至重度发育迟缓/智力低下。来自南卡罗来纳州自闭症项目（SCAP）的99名患者接受了MeCP 2突变筛查，其中包括所有41名可获得DNA样本的女性患者，以及58名在标准智商测试和/或葡萄园适应行为量表中得分最低的男性患者。在这些患者中未观察到致病性突变。一名患者有C582 T变异，以前在RS患者的未受影响的父亲报告。另外两名患者在该基因的3' UTR处具有单核苷酸多态性，G1470 A和C1516 G。这些变异分别见于12/82和1/178例表型正常的男性对照。这项研究和其他研究的结果表明，MeCP 2基因编码序列的突变不是自闭症的重要病因。(C)2003 Wiley-Liss，Inc.
The methyl-CpG binding protein 2 (MeCP2) gene has recently been identified as the gene responsible for Rett syndrome (RS), a pervasive developmental disorder considered by many to be one of the autism spectrum disorders. Most female patients with MeCP2 mutations exhibit the classic features of RS, including autistic behaviors. Most male patients with MeCP2 mutations exhibit moderate to severe developmental delay/mental retardation. Ninety nine patients from the South Carolina autism project (SCAP) were screened for MeCP2 mutations, including all 41 female patients from whom DNA samples were available plus the 58 male patients with the lowest scores on standard IQ tests and/or the Vineland Adaptive Behavior Scale. No pathogenic mutations were observed in these patients. One patient had the C582T variant, previously reported in the unaffected father of an RS patient. Two other patients had single nucleotide polymorphisms in the 3' UTR of the gene, G1470A and C1516G. These variants were seen in 12/82 and 1/178 phenotypically normal male controls, respectively. The findings from this and other studies suggest that mutations in the coding sequence of the MeCP2 gene are not a significant etiological factor in autism. (C) 2003 Wiley-Liss, Inc.