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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
Author(s) -
Karadimas Charalampos,
Panas Marios,
Chronopoulou Penelope,
Avramopoulos Dimitrios,
Vassilopoulos Demetrios
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:4<339::aid-humu18>3.0.co;2-s
Subject(s) - biology , tooth disease , genetics , coding region , mutation , gene , single strand conformation polymorphism , gene mutation , microbiology and biotechnology
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.