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

• Published in: Human mutation 1999, Vol.13 (4), p.339-339
• Main Authors: Karadimas, Charalampos, Panas, Marios, Chronopoulou, Penelope, Avramopoulos, Dimitrios, Vassilopoulos, Demetrios
• Format: Article
• Language: English
• Subjects: Charcot-Marie-Tooth; CMTX; connexin; Gap junction; Greek
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO;2-S

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. © 1999 Wiley‐Liss, Inc.