Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients |
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| Authors: | Milica Keckarevic-Markovic Vedrana Milic-Rasic Jelena Mladenovic Jelena Dackovic Miljana Kecmanovic Dusan Keckarevic Dusanka Savic-Pavicevic Stanka Romac |
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| Institution: | Faculty of Biology, University of Belgrade;;Institute of Neurology and Psychiatry for Children and Young;;and Institute of Neurology, Belgrade, Serbia |
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| Abstract: | 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. |
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| Keywords: | CMT GJB1 MPZ mutation PMP22 |
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