Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian CMT

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J Peripher Nerv Syst. 2009 Jun;14(2):125-36.

Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian

Charcot-Marie-Tooth patients.

Keckarevic-Markovic M, Milic-Rasic V, Mladenovic J, Dackovic J, Kecmanovic M,

Keckarevic D, Savic-Pavicevic D, Romac S.

Faculty of Biology, University of Belgrade, Belgrade, Serbia.

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.