首页>
外国专利>
METHOD OF SCREENING FOR NOVEL EXON 1 MUTATIONS IN MECP2 ASSOCIATED WITH CLASSICAL RETT SYNDROME
METHOD OF SCREENING FOR NOVEL EXON 1 MUTATIONS IN MECP2 ASSOCIATED WITH CLASSICAL RETT SYNDROME
展开▼
机译：与经典RETT综合征相关的MECP2中新的外显子1突变的筛选方法
展开▼
页面导航
摘要
著录项
相似文献
摘要
Recently, a new MECP2 isoform, which has an alternative N-terminus, transcribed from exon 1, was described. Since the incorporation of exon 1 into standard sequencing protocol for Rett syndrome, few patients with exon 1 mutations have been described and several groups have concluded that exon 1 mutations are a rare cause of Rett syndrome. The present invention provides an improved method of diagnosing Rett Syndrome by identifying two different mutations in exon 1 of the MECP2 gene, the first of which results in a switch from alanine to valine at the beginning of a polyalanine stretch, and the second of which results in a disruption of the ATG initiation codon of exon 1. Patients having either such mutation fit the clinical criteria for classic Rett syndrome, and further support previous reports that exon 1 mutations may be associated with a severe phenotype.
展开▼
