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Table 2 Clinical presentation and disease-causing variants identified in non-MD patients

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
12/M + (mother, sibling of patient 13) 8 mo/24 yo Non-syndromic + + + 8, definite ATP1A3 c.2452G>A, p.(Glu818Lys) Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12
13/F + (mother, sibling of patient 12) 7 mo/26 yo Non-syndromic + + 8, definite ATP1A3 c.2452G>A, p.(Glu818Lys) Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12
14/M Birth/14 yo Non-syndromic + + 8, definite ARX c.989G>A, p.(Arg330His) hemizygous Epileptic encephalopathy, early infantile, 1; hydranencephaly with abnormal genitalia; Lissencephaly, X-linked 2; Mental retardation, X-linked 29 and others; Partington syndrome; Proud syndrome
15/F + (paternal cousin) Birth/14 yo Non-syndromic + + 7, probable ATP1A3 c.2755_2757del GTC, p.(Val919del) Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12
16/M Infancy/4 yo Non-syndromic + + + 8, definite WAC c.1171dupA, p.(Thr391Asnfs*15) Desanto-Shinawi syndrome
17/M 3.5 yo/9 yo Non-syndromic + + 8, definite ALDH5A1 c.515G>A, p.(Arg172His) homozygous Succinic semialdehyde dehydrogenase deficiency
18/F 9 yo/29 yo Non-syndromic + + 5, probable FA2H c.460C>T, p.(Arg154Cys) homozygous Spastic paraplegia 35, autosomal recessive
19/M Infancy/26 yo Non-syndromic + + 5, probable NEFL c.293A>G, p.(Asn98Ser) Charcot–Marie–Tooth disease, dominant intermediate G; type 1F; type 1E
20/M Neonatal/8 yoa Non-syndromic + + + 8,definite KCNT1 c.1420C>T, p.(Arg474Cys) Epilepsy, nocturnal frontal lobe, 5; Epileptic encephalopathy, early infantile, 14
21/F Infancy/30 yo Non-syndromic + + + 8, definite NKX2-2 c.32C>T, p.(Ser11Leu) homozygous Diabetes—neonatal onset
22/M Infancy/10 yoa Non-syndromic + + + 4, possible TBCK c.976dupT, p.(Tyr326Leufs*10) and c.478G>T, p.(Glu160*) Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
23/F Infancy/13 yo Non-syndromic + 4, possible LDHD c.469+1dup and c.752C>T, p.(Thr251Met) D-lactic aciduria
  1. M male, F female, mo month(s), yo year(s), CNS central nervous system, CAPOS cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome
  2. aAge at death