Skip to main content
. 2023 Jan 27;14(2):328. doi: 10.3390/genes14020328

Figure 1.

Figure 1

Four families designated as DG-01 (A), BD-06 (B), MR-01 (C), and ICP-RD11 (D) are presented here. Family (A) segregates two conditions: autosomal recessive CMT type 2EE and autosomal recessive ARSACS. Family (B) segregates autosomal recessive CMT Type 4F, while family (C) segregates X-linked dominant CMT. Family (D) segregates autosomal recessive ARSACS. In each family, the index patient is indicated with an arrow. The genotypes of the family members are written below their symbols, whose samples were available for Sanger sequencing. (A) DG-01: In the five-generation pedigree, the four affected siblings (V-1, V-2, V-3, and V-4) are homozygous mutants for both MPV17 c.83G>T and SACS c.4934G>C, while one unaffected sibling (V-5) is homozygous wild type for MPV17, and another unaffected sibling (V-6) is homozygous wild type for SACS. Their parents (IV-4 and IV-5) are heterozygous carriers for MPV17 c.83G>T and SACS c.4934G>C. (B) BD-06: A five-generation pedigree presents the disease in three different clades. Each clade was confirmed for the variant in PRX, and Sanger sequencing was carried out and confirmed that affected individuals (V-1, V-4, V-5, V-7, V-9, V-12, and V-14) are homozygous mutants, while parents (IV-6, IV-7, IV-8, IV-9, III-9, and IV-10) are heterozygous carriers, and normal siblings (V-3, V-7, V-15) are homozygous wild type for PRX c.231C>A. (C) MR-01: In a four-generation pedigree, the two affected siblings (IV-3 and IV-4) are hemizygous mutants, while one unaffected sibling (IV-5) and the father (III-3) are homozygous wild type, and the mother (III-4) is a heterozygous carrier for GJB1: c.61G>C variant. (D) ICP-RD11: In a five-generation pedigree, the two affected siblings (V-1, V-5) are homozygous for the mutant allele, while three unaffected siblings (V-2, V-3, and V-4) are homozygous for the wild type allele and their mother (IV-3) is heterozygous carrier for the SACS c.262C>T variant.