Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report

Table 1 The comparative of 16 short tandem repeats portions in the twin

DNA (STRs)	Twin A	Twin B
D8S1179	10, 11	10, 11
D21S11	30, 32.2	30, 32.2
D7S820	11, 12	11, 12
CSF1PO	10, 12	10, 12
D3S1358	17, 17	17, 17
TH01	9, 10	9, 10
D13S317	10, 11	10, 11
D16S539	9, 10	9, 10
D2S1338	23, 23	23, 23
D19S433	13, 13.2	13, 13.2
vWA	14,18	14, 18
TPOX	8, 8	8, 8
D18S51	11, 16	11, 16
Amelogenin	X, Y	X, Y
D5S818	11, 13	11, 13
FGA	23, 25.2	23, 25.2

DNA: Deoxyribonucleic acid; STRs: Short tandem repeats; vWA: Human von Willebrand factor gene; TPOX: Human thyroid peroxidase gene; FGA: Human alpha fibrinogen gene.

Table 2 The comparisons of 16 short tandem repeats portions for twins and their relatives in the family

DNA (STRs)	Twin A, B	Mother	Father	1st Brother	2nd Sister	5th brother
D8S1179	10, 11	11, 13	10, 14	10, 11	10, 13	10, 11
D21S11	30, 32.2	30, 32.2	30, 30	30, 32.2	30, 32.2	30, 30
D7S820	11, 12	8, 12	8, 11	8, 8	8, 8	8, 12
CSF1PO	10, 12	10, 10	11, 12	10, 11	10, 11	10, 12
D3S1358	17, 17	16, 17	16, 17	16, 17	16, 16	16, 17
TH01	9, 10	7, 9	7, 10	7, 7	9, 10	7, 10
D13S317	10, 11	10, 10	9, 11	9, 10	10, 11	10, 11
D16S539	9, 10	9, 12	10, 12	12, 12	9, 12	12, 12
D2S1338	23, 23	19, 23	21, 23	23, 23	21, 23	19, 23
D19S433	13, 13.2	13, 14.2	13.2, 14.2	13, 13.2	13, 14.2	14.2, 14.2
vWA	14, 18	16, 18	14, 17	14, 18	14, 18	16, 17
TPOX	8, 8	8, 9	8, 8	8, 8	8, 9	8, 8
D18S51	11, 16	16, 16	11, 13	13, 16	11, 16	11, 16
Amelogenin	X, Y	X, X	X, Y	X, Y	X, X	X, Y
D5S818	11, 13	11, 11	12, 13	11, 12	11, 12	11, 13
FGA	23, 25.2	22, 23	22, 25.2	23, 25.2	22, 23	23, 25.2

DNA: Deoxyribonucleic acid; STRs: Short tandem repeats; vWA: Human von Willebrand factor gene; TPOX: Human thyroid peroxidase gene; FGA: Human alpha fibrinogen gene.

Table 3 Shows the different mutated point of the twin from wild type

	Reference bases	Twin A		Twin B
		Variation bases	Total variation percent	Variation bases	Total variation percent
73	A	G	100	G	97.6
150	C	T	100	T	98.6
263	A	G	100	G	98
489	T	C	100	C	100
750	A	G	100	G	98.8
752	C	T	100	T	100
1107	T	C	100	C	99.5
2706	A	G	100	G	100
3590	-	C	34	C	31.2
4769	A	G	99.4	G	100
4883	C	T	91.1	T	80.8
5178	C	A	100	A	100
5301	A	G	100	G	100
6779	A	G	99.7	G	100
7028	C	T	100	T	99.6
8701	A	G	100	G	100
8860	A	G	100	G	100
9033	A	G	100	G	100
9180	A	G	99.7	G	100
9540	T	C	100	C	100
9554	G	A	100	A	100
10397	AA	GG	96.3	GG	98.8
10400	C	T	100	T	100
10873	T	C	100	C	100
11719	G	A	98.4	A	98
11944	T	C	100	C	98.7
12026	A	G	100	G	99.4
12705	C	T	100	T	100
14484	T	C	100	C	100
14766	C	T	97.8	T	98.4
14783	T	C	100	C	68.3
15043	G	A	100	A	98.5
15301	G	A	100	A	100
15326	A	G	100	G	100
15604	C	T	38.6	T	32
16092	T	C	99	C	99.4
16164	A	G	100	G	100
16223	C	T	100	T	99.3
16362	T	C	98.9	C	100

Table 4 Shows the studies on twins harboring 11778 and 14484 Leber’s hereditary optic neuropathy mutation

Ref.	Mono/dizygotic twin (Sex)	Homo/heteroplsmy	Dis-cordant	Age at onset/onset time difference (year)	Epigenetic factors
11778
Nikoskelainen et al[7,8], 1987	NA (m)	Homoplasmy	No	20/NA	NA
Newman et al[9], 1991	M (m)	NA	Yes	NA	NA
	D (m, f)	NA	Yes	NA
Johns et al[2], 1993	M (m)	Homoplasmy	No	34/11	Alcohol/tobacco use
14484
Biousse et al[11], 1997	M (m)	Heteroplasmy	Yes	17/ NA	None
Current study 2021	M (m)	Homoplasmy	Yes	34/ NA	Alcohol/tobacco use

M: Monozygotic twin; D: Dizygotic twin; m: male; f: Female; NA: Not available.