Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients.
We report the results of mutational analysis in the following genes: GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in 57 Charcot-Marie-Tooth (CMT) patients of Serbian origin without the PMP22 duplication. We found 10 different mutations in 14 CMT patients: 6 mutations in GJB1, 3 in MPZ, and 1 in PMP22. Five of six GJB1 mutations are reported for the first time, and the most frequent one appears to be a founder mutation in the Serbian population. No mutations were found in EGR2 or LITAF. Thus, GJB1 mutation analysis should be done in patients without the PMP22 duplication and male-to-male transmission of CMT.
Keckarevic-Markovic
Milica
M
Faculty of Biology, University of Belgrade, Belgrade, Serbia. milica@bio.bg.ac.rs
Milic-Rasic
Vedrana
V
Mladenovic
Jelena
J
Dackovic
Jelena
J
Kecmanovic
Miljana
M
Keckarevic
Dusan
D
Savic-Pavicevic
Dusanka
D
Romac
Stanka
S
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D051767:Early Growth Response Protein 2 / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics; D009185:Myelin Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D055771:Serbia; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D051767:Early Growth Response Protein 2; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; D000097002:Gap Junction beta-1 Protein; C497326:EGR2 protein, human; C118738:LITAF protein, human; C073687:PMP22 protein, human