case_images: PMC11151422_01
case_images: Restriction enzyme digest results from the maternal nephew (III 7) (lane 2, in gel image [a]), and sister (II 4) (lane 2 in [b]) of proband with maternally inherited diabetes and deafness in South Africa, 2016. The m.3243A>G variant creates an ApaI restriction site in the 407 bp PCR amplicon, resulting in 174 bp and 233 bp fragments in affected patients. In unaffected individuals there is 407 bp only (restriction enzyme did not cut) and affected (heteroplasmic) individuals have three bands (wild type [407 bp] and two minor bands [174 bp and 233 bp]). Lanes 1 (both a and b), and 3 and 4 (in a) were other patients that tested negative for the variant. Lane 5 (in a) and lane 3 (in b) are known positive controls. Lane 6 (in a) and lane 4 (in b) are known negative controls. Lane 7 is the no-template control in image a and lane 5 is the no-template control in image b. Lanes L in both images contain GeneRuler DNA Ladder Mix (Thermo Scientific) used as a reference to estimate the size of the unknown fragment.
case_images: AJLM-13-2384-g001.jpg
case_images: PMC11151422_01_AJLM-13-2384-g001.jpg
case_images: F0001
case_images: Generated fragments were compared against a GeneRuler DNA Ladder Mix (Thermo Scientific, Waltham, Massachusetts, United States) (Figure 1).
case_images: Pedigree of proband's family with maternally inherited diabetes and deafness showing variable presentation across three generations in South Africa, 2016. While one of the family members (II 4) only developed mild disease later in life, another (III 7) presented with severe disease early in life. The proband's mother (I 2) and two of his sisters (II 5 and II 6) had hearing loss and all died of cardiovascular related diseases.
case_images: AJLM-13-2384-g002.jpg
case_images: PMC11151422_01_AJLM-13-2384-g002.jpg
case_images: F0002
case_images: The family pedigree (Figure 2) and characteristics (Table 2) indicated variable presentations across three generations.