Point Mutation Analysis of <i>PMP</i>22 in Patients Referred for Hereditary Neuropathy with Liability to Pressure Palsies

作     者：Samuel B. Brown David J. Bunyan 

作者机构：Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury UK Human Genetics Division Southampton University School of Medicine Southampton UK 

出 版 物：《Open Journal of Genetics》 (遗传学期刊（英文）)

年 卷 期：2014年第4卷第6期

页      面：426-433页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：Point Mutations PMP22 HNPP 

摘      要：A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial gene deletions, and the remaining 307 patients were screened for PMP22 point mutations. Nine point mutations were identified (8.5% of all mutations), eight of which were in exon 5, suggesting a point mutation hotspot for individuals with this condition. Sequencing analysis of PMP22 exon 5 should therefore be included as a routine diagnostic test for gene deletion-negative patients.