Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome
Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome
复制标题
三名 Rett 综合征患者 MECP2 基因的总体重排：对 Rett 综合征常规诊断的意义
作者：
E. Schollen;E. Smeets;E. Deflem;J. Fryns;G. Matthijs
自1999年以来，许多实验室已经证实MECP2基因突变是Rett综合征（RTT或RS）的主要原因，并在70%至90%的零星受影响的女孩中发现了突变。大多数筛选是基于PCR的，仅限于基因的编码部分，因此容易错过总体重排。通过Southern blot分析，我们在三名患有经典严重Rett综合征的女性患者中发现了大缺失（bbb1kb）。通过半定量PCR和连接片段扩增进一步表征，证实在一名患者中存在7.6 kb的缺失，在另一名患者中存在8.1 kb的缺失，均包括外显子3和外显子4的编码部分。第三名患者的重排的确切性质仍然难以捉摸。这些结果强调了筛查Rett综合征主要基因组重排的重要性。生物工程学报，2003,22(2):116 - 120。©2003 Wiley‐Liss, Inc。
Since 1999, many laboratories have confirmed that mutations in the MECP2 gene are the primary cause of Rett syndrome (RTT or RS) and identified mutations in 70 to 90% of the sporadically affected girls. Most of the screenings are PCR‐based and restricted to the coding part of the gene and therefore prone to miss gross rearrangements. By Southern blot analysis we identified large deletions (>1 kb) in three female patients with classical, severe Rett syndrome. Further characterization by semi‐quantitative PCR and amplification of junction fragments confirmed the presence of a 7.6‐kb deletion in one patient and an 8.1‐kb deletion in the other patient, both including exon 3 and the coding part of exon 4. The exact nature of the rearrangement in the third patient remained elusive. These results underline the importance of screening for major genomic rearrangements in Rett syndrome. Hum Mutat 22:116–120, 2003. © 2003 Wiley‐Liss, Inc.