title: An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth.
abstract: Charcot-Marie Tooth (CMT) is a clinically and genetically heterogeneous group of diseases with rough genotype-phenotype correlation, so the final diagnosis requires extensive clinical and electrophysiological examination, family data, and gene mutation analysis. Although there is a common pattern of genetic basis of CMT, there could be some population differences that should be taken into account to facilitate analyses. Here we present the algorithm for genetic testing in Serbian patients with demyelinating CMT, based on their genetic specificities: in cases of no PMP22 duplication, and if -X-linked CMT (CMTX) is not contraindicated by pattern of inheritance (male-to-male transmission), one should test for c.94A>G GJB founder mutation, first. Also, when a patient is of Romani ethnicity, or if there is an autosomal recessive inheritance in a family and unclear ethnicity, c.442C>T mutation in NDRG1 should be tested.
authors.affiliation: Faculty of Biology, University of Belgrade, Belgrade, Serbia. milica@bio.bg.ac.rs
authors.forename: Milica P
authors.initials: MP
authors.lastname: Keckarevic Markovic
authors.forename: Jelena
authors.initials: J
authors.lastname: Dackovic
authors.forename: Jelena
authors.initials: J
authors.lastname: Mladenovic
authors.forename: Vedrana
authors.initials: V
authors.lastname: Milic-Rasic
authors.forename: Miljana
authors.initials: M
authors.lastname: Kecmanovic
authors.forename: Dusan
authors.initials: D
authors.lastname: Keckarevic
authors.forename: Stanka
authors.initials: S
authors.lastname: Romac
mesh_terms: D000465:Algorithms; D016022:Case-Control Studies; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D003711:Demyelinating Diseases / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D005006:Ethnicity; D056726:Genetic Association Studies; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D055771:Serbia; D044465:White People