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

Ye, Ziqing; Xue, Aijuan; Huang, Ying; Wu, Qiye

doi:10.1186/s12876-018-0836-5

BMC Gastroenterology

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
1	4	MT-CYB	m. 15323	G > A homoplasmy	p.A193T	0.41	N/A	m.16519C > T
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
5	13	MT-CYB	m. 14766	C > G homoplasmy	p.T7I	0	N/A	N
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
12	7	MT-RNR2	m.1709	G > A homoplasmy	rRNA	0.36	N/A	N
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

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

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ISSN: 1471-230X

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