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. 2022 Jun 8;7(11):e157418. doi: 10.1172/jci.insight.157418

Figure 1. Pedigrees showing the inheritance of the mt-tRNAPhe 616T>C variant.

Figure 1

(A) Pedigree of family 1 carrying the homoplasmic m.616T>C variant (MT-TF). (B) MRI scans and B ultrasound of the proband in family 1 showing decreased kidney size in proband 1. Bar: 10 cm. (C) Tophi and swollen joint phenotypes in several affected patients in family 1 (II-2, III-1, and III-4). (D) Pedigree of family 2 carrying the m.616T>C variant. (E) MRI scans and B ultrasound of the proband in family 2 showing abnormal changes. (F) Homoplasmic and heteroplasmic m.616T>C identified in family 2 by Sanger-Seq. (G) Pedigree of family 3 carrying the m.616T>C variant. (H) Abdominal CT scan and B ultrasound of proband 3 showing abnormal changes. (I) Homoplasmic and heteroplasmic m.616T>C identified in family 3 by Sanger-Seq. Squares indicate males; circles indicate females; solid indicate patients; and arrows indicate probands.