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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
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Human Genomics

ISSN: 1479-7364