Table 1.

Individual LHON pedigrees in Australia

	Pedigree	Mutation	Affected male	Affected female	Carrier malea	Carrier femalea	Family penetranceb	mtDNA haplogroup	Reference
1	ACT02	11778	1	2	0	3	50%	unknown	new
2	NSW01	11778	8	3	45	59	10%	H1n	Mackey and Buttery15
3	NSW02	11778	8	3	68	80	7%	H	Mackey and Buttery15
4	NSW03	11778	3	2	26	29	8%	U5a1	Mackey and Buttery15
5	NSW04	11778	21	7	55	70	18%	J1c1	Chan et al.22
6	NSW05	11778	3	2	13	13	16%	unknown	Chan et al.22
7	NSW06	11778	9	5	12	15	34%	H4a1	Chan et al.22
8	NSW09	11778	8	6	14	21	28%	J1c4	new
9	NSW11	11778	2	1	4	7	21%	Y2a	new
10	NSW16	11778	1	0	3	3	14%	unknown	new
11	NSW17	11778	1	0	5	5	9%	T2f1	new
12	NSW18	11778	1	0	2	6	11%	J1c1	new
13	NSW20	11778	4	2	3	7	37%	unknown	new
14	NSW23	11778	3	0	4	7	21%	J	new
15	NSW25	11778	1	0	9	10	5%	unknown	new
16	NSW26	11778	0	2	0	5	28%	K	new
17	NZ01	11778	0	1	0	1	50%	U	Chan et al.22
18	NZ02	11778	7	3	14	28	19%	U5b2a	Chan et al.22
19	NZ03	11778	2	0	0	3	40%	J	Chan et al.22
20	NZ04	11778	1	0	1	3	20%	unknown	Chan et al.22
21	NZ05	11778	1	0	0	1	50%	unknown	Chan et al.22
22	NZ07	11778	1	0	0	3	25%	unknown	new
23	NZ08	11778	1	0	3	8	8%	unknown	new
24	NZ09	11778	3	0	0	2	60%	unknown	new
25	NZ12	11778	0	1	3	2	16%	H	new
26	QLD02	11778	7	2	33	40	11%	J2b1	Mackey and Buttery15
27	QLD03	11778	1	0	9	14	4%	J1c2	Chan et al.22
28	QLD04	11778	1	0	3	4	12%	T2b4	Chan et al.22
29	QLD05	11778	0	1	6	10	6%	HV	new
30	QLD07	11778	1	0	4	9	7%	unknown	new
31	QLD09	11778	0	1	5	5	9%	unknown	new
32	QLD10	11778	1	0	6	9	6%	N	new
33	QLD11	11778	1	0	1	5	14%	W	new
34	QLD12	11778	2	1	1	6	30%	U	new
35	SAU03	11778	1	0	3	8	8%	unknown	new
36	TAS01	11778	112	27	899	1025	7%	H	Mackey and Buttery15
37	TAS05	11778	2	0	22	21	4%	H3f	Mackey and Buttery15
38	VIC03	11778	7	0	14	23	16%	U	Mackey and Buttery15
39	VIC04	11778	6	0	34	40	7%	H1c3	Mackey and Buttery15
40	VIC05	11778	1	0	12	20	3%	K2a4	Mackey and Buttery15
41	VIC06	11778	7	2	10	14	27%	H1	Mackey and Buttery15
42	VIC07	11778	11	0	16	38	17%	I2a	Mackey and Buttery15
43	VIC09	11778	1	0	4	6	9%	unknown	Chan et al.22
44	VIC10	11778	6	2	8	9	32%	J2a1a	Chan et al.22
45	VIC15	11778	2	0	9	9	10%	unknown	new
46	VIC17	11778	1	1	2	2	33%	J1c5a	new
47	VIC18	11778	1	1	2	2	33%	U4c1	new
48	VIC19	11778	1	0	4	8	7%	B4b1a2	Craig et al.31
49	VIC21	11778	4	3	24	27	12%	H13a1a	new
50	VIC22	11778	1	0	14	21	3%	H13a1a	new
51	VIC25	11778	1	0	4	5	10%	T1a1	new
52	VIC29	11778	1	1	32	33	3%	U5a1a1	new
53	VIC31	11778	2	0	4	4	20%	J	new
54	VIC39	11778	1	0	3	4	12%	unknown	new
55	VIC40	11778	3	1	3	5	33%	unknown	new
56	VIC41	11778	1	0	0	2	33%	H	new
57	VIC43	11778	1	0	1	3	20%	K	new
58	VIC45	11778	3	0	0	4	42%	unknown	new
59	VIC46	11778	1	0	5	4	10%	B	new
60	WAU01	11778	16	5	42	55	18%	J	Mackey and Buttery15
61	WAU02	11778	6	1	20	25	13%	K	Chan et al.22
62	WAU03	11778	1	0	21	39	1%	I2a	Chan et al.22
63	WAU04	11778	1	1	22	19	4%	H3	new
64	WAU11	11778	1	1	6	19	7%	unknown	new
65	WAU12	11778	2	0	1	6	22%	unknown	new
66	ACT01	14484	3	0	1	12	19%	J	Chan et al.22
67	NSW10	14484	0	1	0	1	50%	unknown	new
68	NSW12	14484	1	0	22	44	1%	K1c2	new
69	NSW15	14484	2	0	9	15	8%	U5a1a1	new
70	NSW19	14484	6	1	21	26	13%	L1b1a1	new
71	NSW24	14484	1	0	2	3	17%	unknown	new
72	NZ06	14484	1	0	3	9	8%	unknown	new
73	NZ10c	14484	1	0	13	13	4%	J	new
74	NZ11	14484	1	0	5	12	6%	J	new
75	SAU02	14484	1	1	1	1	50%	unknown	Chan et al.22
76	SAU05	14484	0	1	5	15	5%	H	new
77	TAS02	14484	74	9	320	380	11%	J1c2c	Mackey and Buttery15
78	VIC02c	14484	2	4	1	3	60%	J1b1a	Mackey and Buttery15
79	VIC08	14484	1	0	7	9	6%	J1c1	Mackey and Buttery15
80	VIC11	14484	5	5	12	22	23%	J1c1	Chan et al.22
81	VIC14	14484	1	0	17	34	2%	H3c	Howell et al.26
82	VIC24	14484	1	0	3	2	17%	unknown	new
83	VIC30c	14484	1	0	9	15	4%	H	new
84	VIC42	14484	1	0	7	11	5%	J	new
85	WAU7	14484	1	0	2	2	20%	unknown	new
86	NSW07	3460	1	1	2	6	20%	T	Chan et al.22
87	NSW14	3460	0	1	1	1	33%	unknown	new
88	TAS03	3460	3	0	45	39	3%	H5a1	Mackey and Buttery15
89	VIC01	3460	6	3	4	11	37%	H	Mackey and Buttery15
90	VIC28	3460	3	0	7	7	18%	H	new
91	WAU06	3460	1	0	7	8	6%	M53	new
92	WAU08	3460	2	0	7	10	10%	unknown	new
93	SAU04	4171	1	1	4	6	17%	HV0	new
94	NSW08	14482	5	2	17	30	13%	I1a	Chan et al.22
95	VIC20	11778+14484	1	2	15	23	7%	U5a1a1	Howell et al.33
96	QLD01	14484+4160	26	35	9	14	73%	U4a1a	Mackey and Buttery15
Total			462	158	2,171	2,777

LHON pedigrees are organized alphabetically and by LHON mutation.

^aOnly asymptomatic carriers over 25 years of age are included.

^bRounded to nearest whole percentage.

^cHeteroplasmic mutation.