Fig. 1.

Pedigree, sequencing chromatograms, and conservation analysis in a family affected from BSCL2 mutation. a: pedigree of family 1 having autosomal dominant form of CMT disease is drawn. A heterozygous mutation in the BSCL2 gene was identified in proband III-2 (pointed with an arrow), II-2, II-4, II-8, II-11, III-1, III-8, and III-15 members of the pedigree. +/+: WT, wild type; +/-: heterozygous for the mutation. b: chromatograms of the heterozygous c.C1049A (S350X) variant in exon 7 of ACTA1 are illustrated. Arrows are pointing to the mutated nucleotide position in the patients. c: chromatograms of the heterozygous c.C269T (S90L) mutation in exon 3 of BSCL2 are illustrated. Arrows are pointing to the mutated nucleotide position in the patients. d: amino acid alignment of seipin protein orthologs from several species using Clustal Omega is presented. Arrow head is pointing to the evolutionary conserved amino acid which is mutated in studied patients