Figure 1
From: A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
Pedigree and HADHB mutations in FC354. (A) Alleles of two HADHB mutations were indicated. Open symbols, unaffected; filled symbols, affected; arrow, proband; asterisks, individuals underwent WES. (B) Sequencing chromatograms of c.686G > T and c.210-1G > C mutation. Vertical arrows indicate the mutation site. (C) Conservation analysis of amino acid sequences among species. Complete conserved amino acids, red; partial conserved amino acids, blue. (D) Deletion of exon5 in c.210-1G > C allele was confirmed by cDNA sequencing. (E) Expression level of HADHB in the proband’s fibroblast. Ctr1, normal control fibroblast; and Ctr2-7, fibroblast from CMT patients with mutation in other than HADHB gene.