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Table 1 Clinical presentation and disease-causing variants identified in patients with MDs

From: Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Patient no./sex Family history Age of onset/age of last follow-up Initial presentation Muscular CNS Heart Vision Hearing Neuro-imaging MDC score (pre-biopsy) Gene Variant Disease association
1/M Day 1/8 moa Non-syndromic + + + + + 8, definite COQ4 c.370G>A, p.(Gly124Ser), and c.402+1G>C Coenzyme Q10 deficiency, primary, 7
2/F Infancy/4 yo Non-syndromic + + 6, probable COQ4 c.371G>T, p.(Gly124Val), and c.370G>A, p.(Gly124Ser) Coenzyme Q10 deficiency, primary, 7
3/M Infancy/3 yo Non-syndromic + + 6, probable COQ4 c.402+1G>A and c.550T>C, p.(Trp184Arg) Coenzyme Q10 deficiency, primary, 7
4/F Birth/3 yoa Non-syndromic + + + 8, definite COQ4 c.370G>A, p.(Gly124Ser) homozygous Coenzyme Q10 deficiency, primary, 7
5/M Birth/1 yoa Non-syndromic + + + 8, definite COQ7 c.319C>T, p.(Arg107Trp), and c.599_600delinsTA ATGCATC, p.(Lys200Ilefs*56) Coenzyme Q10 deficiency, primary, 8
6/F Infancy/24 yo Syndromic + + 8, definite SURF1 c.792_793del, p.(Arg264Serfs*27), and c.529del, p.(Val177*) Leigh syndrome, due to COX IV deficiency; Charcot–Marie–Tooth disease, type 4 K
7/M 8 yo/43 yo Non-syndromic + + 5, probable NDUFA9 c.1078C>T, p.(Arg360Cys) homozygous Mitochondrial complex I deficiency, nuclear type 26
8/M + (sibling of patient 9) Neonatal/18 yo Syndromic + + + 7, probable TAZ c.718G>C, p.(Gly240Arg) hemizygous Barth syndrome
9/M + (sibling of patient 8) 5 months/9 yo Syndromic + + 4, possible TAZ c.718G>C, p.(Gly240Arg) hemizygous Barth syndrome
10/M 4 yo/8 yo Syndromic + 3, possible OPA1 c.1218delC, p.(Glu408Lysfs*7) Optic atrophy 1; optic atrophy plus syndrome
11/M Infancy/7 yo Non-syndromic + + 6, probable OPA1 c.2345A>G, p.(His782Arg) Optic atrophy 1; optic atrophy plus syndrome
  1. M male, F female, mo month(s), yo year(s), CNS central nervous system
  2. aAge at death