Skip to main content
. 2020 Jul 23;105(12):2883–2886. doi: 10.3324/haematol.2020.258533

Figure 1.

Figure 1.

Description of a patient with sideroblastic anemia type II, and characterization of uniparental isodisomy. (A) Genetic pedigree of the family. Square: male; circle: female; solid symbols: affected person; arrow: proband. According to uniparental isodisomy, only the father carried the variant c.832C>T, p.Arg278 *in the SLC25A38 gene. (B) Hemoglobin levels of the patient after blood transfusions and erythropoietin (EPO) supplementation. (C) Alignment track of next-generation sequencing analysis of the proband, mother, and father, showing presence of the c.832C>T variant as homozygous in the proband (mutated allele [T] frequency, 97% [184/190 reads]; wild-type [wt] allele (C) frequency, 3% [6/190 reads]), as heterozygous in the father, and absent in the mother. (D) Agilent CytoGenomic view of the single nucleotide polymorphism (SNP) data. Top panel: number of uncut alleles. Bottom panel: comparative genomic hybridization (CGH) data (log2 ratios). Data from GenetiSure Postnatal Research CGH+SNP 2x400 Array (Agilent), which show large regions of homozygosity on chromosome 3. (E) Diagram of the SLC25A38 protein structure and the pathogenic variants, as obtained from the Human Gene Mutation Database Professional (updated in June 2020). Circle colors define the mutation types (for different mutation types at a single position, the color defines the most frequent) (https://www.cbioportal.org/mutation_mapper).