Güngör O, Kirik S, Cevizli D, Karaokur F, Ozer L, Uysal S, Dilber C
Genet Couns. 2015;26(4):387-92.
The Rett syndrome (RTT; OMIM #312750) is a rare genetic disease observed predominantly among girls that affects neurological development. The incidence of this disorder is approximately 1 in 10,000 female births. Diagnosis of the RTT is based on specific clinical criteria and the identification of a mutation in the methyl-CpG-binding protein (MECP), which mainly occurs on exons 3 and 4 of the gene. Mutations in the X-linked methyl-CpG binding protein 2 gene (MECP2) are observed in nearly 95% of RTT cases. RTT is associated with considerable genotypic and phenotypic heterogeneity. Recently, it has been observed that mutations in the genes Netrin G1 and cyclin-dependent kinase like 5 (CDKL5) also lead to clinical pictures resembling RTT. In this case report, we describe a 4-years-old female patient who met all the relevant criteria for the diagnosis of RTT. Sequence analyses performed on the patient identified a de novo, heterozygous c.489G>A mutation at exon 4 of the MECP2 gene.
雷特综合征（RTT；OMIM #312750）是一种主要在女孩中观察到的罕见遗传病，会影响神经发育。这种疾病的发病率约为每10000例女性出生中有1例。雷特综合征的诊断基于特定的临床标准以及甲基化CpG结合蛋白（MECP）突变的鉴定，该突变主要发生在该基因的第3和第4外显子上。在近95%的雷特综合征病例中观察到X连锁甲基化CpG结合蛋白2基因（MECP2）的突变。雷特综合征与相当大的基因型和表型异质性相关。最近，有人观察到，神经纤毛蛋白G1基因和细胞周期蛋白依赖性激酶样5基因（CDKL5）的突变也会导致类似雷特综合征的临床表现。在本病例报告中，我们描述了一名4岁女性患者，她符合雷特综合征诊断的所有相关标准。对该患者进行的序列分析在MECP2基因的第4外显子上鉴定出一个新发的杂合c.489G>A突变。
