Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin : T55I, R164Q, V120E

✍ Scribed by Charalampos Karadimas; Marios Panas; Penelope Chronopoulou; Dimitrios Avramopoulos; Demetrios Vassilopoulos

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 11 KB
• Volume: 13
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1999)13:4<339::aid-humu18>3.0.co;2-s

✦ Synopsis

Charcot-Marie-Tooth (CMT) disease type CMTX has been linked with mutations in GJB1, a gene on chromosome X coding for a gap junction protein, Connexin 32. We screened the GJB1 gene for mutations by SSCP analysis and sequencing of candidate regions, in five unrelated CMT affected individuals, members of families presenting a mode of transmission and clinical findings compatible with CMTX. Mutations were detected in all five patients. Three not previously reported mutations were identified: C164T, G491A and T359A. Two patients shared the same mutation (C164T) while one had a reported mutation (C43T). Restriction enzyme digestion confirmed the sequencing results, as well as the co-segregation of the mutation with the disease. The same method was used to screen 150 control X chromosomes and the variations were not detected.