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Table 1 Summary of mtDNA sequencing in pediatric patients with cyclic vomiting syndrome

From: Children with cyclic vomiting syndrome: phenotypes, disease burden and mitochondrial DNA analysis

Case Age (years) mtDNA sequence variants Frequency Associated disease Polymorphism
1 4 MT-CYB m. 15090 T > C homoplasmy p.I115T 0.04 N/A m.16519C > T
MT-CYB m. 15323 G > A homoplasmy p.A193T 0.41 N/A
2 6 MT-RNR1 m.1005 T > C homoplasmy rRNA 0.38 Deafness N
MT-RNR2 m.1824 T > C homoplasmy rRNA 0.22 N/A
MT-RNR2 m.2060 A > G homoplasmy rRNA 0.02 N/A
MT-ND4 m.11150 G > A homoplasmy p.A131T 0.25 N/A
MT-ND5 m.12338 T > C homoplasmy p.MIT 0.23 Increased penetrance of deafness, LHON
MT-CYB m.15714 C > T homoplasmy p.S323 L 0.01 N/A
3 6 MT-RNR1 m.960 C > CC heteroplasmy rRNA 0.58 Associated with deafness N
MT-ND5 m.12361 A > G homoplasmy p.T9A 0.59 NAFLD
MT-CYB m.15662 A > G homoplasmy p.I306V 0.38 Complex mitochondrial disease
MT-CYB m. 15734 G > A homoplasmy p.A330T 0.38 N/A
MT-CYB m.15851 A > G homoplasmy p.I369V 0.36 N/A
MT-TT/MT-ATT m. 15927 G > A homoplasmy tRNA 0.98 MS, increased penetrance of deafness, CHD
4 13 MT-RNR1 m.752 C > T homoplasmy rRNA 0.47 N/A N
MT-RNR1 m.1107 T > C homoplasmy rRNA 0.85 N/A
MT-ND4 m. 12026 A > G homoplasmy p.I423V 0.51 Diabetes mellitus
5 13 MT-TE m.14693 A > G homoplasmy tRNA 0.65 MELAS, LHON, deafness, HTN N
MT-CYB m. 14766 C > G homoplasmy p.T7I 0 N/A
6 6 MT-RNR1 m.1382 A > C homoplasmy rRNA 0.42 N/A m.3010 G > A
MT-TC m.5802 T > C homoplasmy rRNA/tRNA 0 increased penetrance of deafness,
MT-C01 m.6259 A > G heteroplasmy p.E119G 0 N/A
7 10 MT-ATP6 m.8842 A > G homoplasmy p.I106V 0.13 N/A N
MT-C03 m.9319 A > G homoplasmy p.H38R 0 N/A
MT-ND3 m. 10327 C > T homoplasmy p.S90 L 0.02 N/A
MT-ND5 m. 13967 C > T homoplasmy p.T544 M 0.32 Associated with LHON
8 14 MT-RNR2 m.1715 C > T homoplasmy rRNA 0.40 N/A N
MT-ND2 m.5277 T > C homoplasmy p.F270 L 0.26 N/A
MT-C02 m.7980 A > G homoplasmy p.D132G 0.01 N/A
MT-ATP6 m.8945 T > C homoplasmy p.M140 T 0.03 N/A
MT-TP/MTATT m. 15968 T > C homoplasmy tRNA 0.42 N/A
9 7 MT-RNR1 m.1147 G > A heteroplasmy rRNA 0 N/A m.16519C > T
MT-ND1 m.4136 A > G heteroplasmy p.Y277C 0.12 LHON
MT-ND2 m.4638 A > G homoplasmy p.I57V 0.01 N/A
MT-ND2 m.4833 A > G homoplasmy p.T122A 0.82 Associated with diabetes, Alzheimer, Parkinson disease
10 11 MT-RNR2 m.2417 C > G homoplasmy rRNA 0.02 N/A m.16519C > T
MT-TL1 m.3290 T > C homoplasmy tRNA 0.2 Possibly associated with HTN
MT-TQ m.4345 C > T homoplasmy tRNA 0.01 Possibly associated with HTN
MT-ND2 m.5263 C > T homoplasmy p.A265V 0.57 N/A
MT-TH m.12153 C > T homoplasmy tRNA 0.09 N/A
11 12 MT-RNR1 m.1520 T > C heteroplasmy rRNA 0.06 N/A m.16519C > T, m.3010 G > A
MT-RNR2/MT-RNR3 m.3206 C > T heteroplasmy rRNA 0.40 N/A
MT-ND2 m.5466 A > G homoplasmy p.T333A 0.06 N/A
MT-TG m.9992 C > T homoplasmy tRNA 0.02 N/A
MT-ND5 m.13834 A > G homoplasmy p.T500A 0.09 N/A
MT-CYB m. 14979 T > C homoplasmy p.I78T 0.44 N/A
12 7 MT-RNR1 m.961 T > C heteroplasmy rRNA 0.99 Deafness, possibly associated with NVM N
MT-RNR2 m.1709 G > A homoplasmy rRNA 0.36 N/A
13 3 MT-HV2/ MT-OHR/ MT-TFY/ MT-CSB2/ MT-ATT/ MT-CR m.301 A > ACC heteroplasmy Non-coding 0.00 N/A N
MT-ND1 m.4029 C > T homoplasmy p.12411 0.01 N/A
MT-ND1 m.4086 C > T homoplasmy p.V260 V 0.75 N/A
MT-C02 m.8149 A > G homoplasmy p.R188R 0.32 N/A
MT-C03 m.9548 G > A homoplasmy p.G114G 0.97 N/A
MT-C03 m.9944 T > C heteroplasmy p.D246D 0.17 N/A
MT-HV1/ MT-TAS2/ MT-ATT/ MT-CR/ MT-7SDNA m.16108 C > T homoplasmy Non-coding 0.24 N/A
  1. Frequency: reported in Gene Bank, HTN hypertension, LHON Leber hereditary optic neuropathy, MELAS mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, MS multiple sclerosis, N/A not available, NVM noncompaction of ventricular myocardium, N none identified, Polymorphism: reported to be associated with CVS