PMC6837162_01
(A) Recently heeled foot ulcer. (B) Chromatograms of the reverse RETREG1 gene sequence in the proband (top), her father (middle), and her mother (bottom). (C) Single nucleotide polymorphism array analysis of chromosome 5 from the proband (top), her father (middle), and her mother (bottom) showed uniparental isodisomy of chromosome 5 in the proband. (D) Pedigree: The filled box indicates the patient and the half-filled box indicates the father as the heterozygous carrier. Genotypes of chromosome 5 in the proband and her parents revealed that her uniparental isodisomy originated from the father.
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The patient exhibited a decreased sensitivity to pain, temperature, touch, and vibration and decreased sense of position in both lower extremities, with an ulcer on her left toe, which had lasted more than a year and had healed recently ( Figure 1A ). Figure 1B ). Furthermore, a single nucleotide polymorphism array (Infinium Global Screening Array-24+ v2.0, Illumina) was performed with DNA from the patient and her parents, revealing paternal uniparental isodisomy of chromosome 5 ( Figures 1C, D ).