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Table 4 WES results related to the origin of the qualified material and to the specific inclusion criteria

From: New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

Subgroups of patients MD or non-MD genes loci of variants Diagnostics based on archival material Current diagnostics Total
Disease onset (year) 1996–2012 2013–2014 1996–2014
Number of patients 88 (5.5/year) 25 (12.5/year) 113
Period from onset to WES qualification (years) 2–25 (mean 5.5 ± 5.9 ) 0 0–25
MDC scale (A+B, without C) 4.2 ± 1.5 (2–8) 3.6 ± 1.2 (2–6) 4.1 ± 1.5
Ratio of MD-related/non MD related genes 3.4 1.0 2.4
Patients deceased Total no. 41 8 44 %
MD 51.2 % (21) 2 47 % (23)
non MD (3) 2 (5)
Patients with neonatal onset Total no. 41 6 42 %
MD 53.7 % (22) 2 51 % (24)
non MD (5) 2 (7)
Patients with LS or other basal ganglia involvement Total no. 21 7 25 %
MD 61.9 % (13) 3 57 % (16)
non MD (2) 0 (2)
3-methylglutaconic aciduria Total no. 13 3 14 %
MD 53.8 % (7) 2 53 % (9)
non MD 0 1 (1)
Muscle biopsy Total no. 62 5 67/113
MD 56.4 % (35) (4) 58 % (39)
non MD (10) (0) (10)
Percentage of muscle biopsy 70 % 20 % 59 %
  1. aItalics in brackets indicates the number of patients in the given subset
  2. LS Leigh syndrome, MD mitochondrial disorder, MD/non MD MD-related/non MD-related genes wherein variants were identified