title: Mutation analysis of the MPZ and PMP22 genes in Croatian patients.
abstract: We used single-strand conformation polymorphism analysis for mutational screening in two candidate genes, MPZ and PMP22, which have an important role in the pathogenesis of Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies. A novel Ser8Ser polymorphism was found in exon 1 of the MPZ gene in two heterozygous subjects, in a father with mild CMT2 phenotype and his daughter with normal clinical data. Thr118Met polymorphism was found in exon 5 of the PMP22 gene. The patient heterozygous for 118Met allele had CMT1 disease. We can conclude that the occurrence of the 118Met allele does not usually cause CMT1 and that it is not a clinically relevant disease marker.
authors.affiliation: Clinical Institute of Laboratory Diagnosis, Zagreb University School of Medicine and Clinical Hospital Center, Croatia. bgrskov@mef.hr
authors.forename: Branka
authors.initials: B
authors.lastname: Grsković
authors.forename: Goran
authors.initials: G
authors.lastname: Ferencak
authors.forename: Ana Stavijenić
authors.initials: AS
authors.lastname: Rukavina
authors.forename: Monika
authors.initials: M
authors.lastname: Karija
authors.forename: Ivana
authors.initials: I
authors.lastname: Furac
authors.forename: Milovan
authors.initials: M
authors.lastname: Kubat
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D017523:Croatia; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D018993:Myelin P0 Protein / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D012694:Serine
chemical_list: D018993:Myelin P0 Protein; D009185:Myelin Proteins; D012694:Serine