Table 2 Pathogenic variants identified by the NGS analysis in this study. Variants identified in mtDNA
Patient N° | Age-range onset (years) / sex | Pathogenic variant | Tissue | Clinical presentation |
|---|---|---|---|---|
24 | 1–16 / F | m.1555A > G homoplasmic | blood, urine | Fahr syndrome + clinical pseudostroke |
28 | > 16 / M | m.3243A > G heteroplasmic | muscle | Rhabdomyolysis |
30 | > 16 / F | m.3460G > A homoplasmic | blood | Optic atrophy |
31 | > 16 / M | m.11178G > A homoplasmic | blood | Optic atrophy |
32 | > 16 / F | m.5703G > A heteroplasmic | urine, buccal | Sensorineural hypoacusia, CPEO, cachexia |
33 | Infancy / F | m.8993 T > C homoplasmic | muscle | Leigh syndrome |
40 | > 16 / M | m.11178G > A homoplasmic | blood | Optic atrophy |
42 | > 16 / F | Single deletion | muscle | Kearn-Sayre Syndrome |
44 | > 16 / F | m.3243A > G heteroplasmic | buccal, blood | Diabetes, sensorineural deafness, pattern macular dystrophy, myalgia, nephropathy |
46 | > 16 / M | m.11178G > A homoplasmic | blood | Optic atrophy |
54 | > 16 / F | Single deletion | muscle | Ptosis, proximal myopathy |
55 | > 16 / M | m.3243A > G heteroplasmic | blood, muscle | Hypertrophic cardiomyopathy, hypoacusia, strokes |
58 | > 16 / M | m.1555A > G heteroplasmic | blood | Diabetes, deafness |
62 | > 16 / F | m.3243A > G heteroplasmic | blood, urine | Diabetes, deafness, cerebellar ataxia, hypertrophic cardiomyopathy |
63 | > 16 / M | m.3243A > G heteroplasmic | blood | Hypertrophic cardiomyopathy, deafness |