Variable
|
Total
(N=258)
|
MPS I
(N=59)
|
MPS II
(N=18)
|
MPS III
(N=33)
|
MPS IV
(N=90)
|
MPS VI
(N=58)
|
Familial/Sporadic |
|
|
|
|
|
|
Familial |
84 (32.6%) |
19 (32.2%) |
6 (33.3%) |
8 (24.2%) |
31
(34.4%) |
20 (34.5%) |
Sporadic |
171 (66.3%) |
39 (66.1%) |
12 (66.7%) |
25 (75.8%) |
59
(65.6%) |
36 (62%) |
Unknown |
3 (1.1%) |
1 (1.7%) |
- |
|
- |
2 (3.5%) |
Consanguinity |
|
|
|
|
|
|
DFC |
4 (1.6%) |
- |
- |
- |
2 (2.2%) |
2 (3.4%) |
FC/FCOR |
179 (69.4%) |
43 (72.9%) |
4 (2.2%) |
24 (72.8%) |
64
(71.1%) |
44 (75.9%) |
SC or further |
28 (10.9%) |
2 (3.4%) |
3 (16.7%) |
4 (12.1%) |
16
(17.8%) |
3 (5.1%) |
Non-consanguineous |
42 (16.3%) |
11 (18.6%) |
11 (61.1%) |
5
(15.1%) |
8 (8.9%) |
7 (12%) |
Unknown |
5 (1.9%) |
3 (5.1%) |
- |
- |
- |
2 (3.4%) |
Genotype |
|
|
|
|
|
|
Homozygous |
225 (87.2%) |
54 (91.5%) |
- |
30 (90.1%) |
85 (94.4%) |
56 (96.6%) |
Compound Heterozygous |
12 (4.7%) |
4 (6.8%) |
- |
3 (9.9%) |
4
(4.5%) |
1 (1.7%) |
Hemizygous |
18 (7%) |
- |
18 (100%) |
- |
- |
- |
Heterozygous |
3 (1.2%) |
1 (1.7%) |
- |
- |
1 (1.1%) |
1
(1.7%) |
Coding Impact |
|
|
|
|
|
|
Missense |
168 (65.1%) |
33 (55.9%) |
8 (4.4%) |
19 (57.6%) |
66
(73.2%) |
42 (72.4%) |
Nonsense |
31 (12%) |
5 (8.5%) |
2 (1.1%) |
6 (18.2%) |
6 (6.7%) |
12 (20.7%) |
Frameshift Insertion |
5 (1.9%) |
3 (5.2%) |
1 (5.6%) |
|
1 (1.1%) |
- |
Frameshift Deletion |
15 (5.8%) |
8 (1.4%) |
1 (5.6%) |
|
5 (5.6%) |
1 (1.7%) |
Non-frameshift Insertion |
2(0.8%) |
1 (1.7%) |
- |
1 (3%) |
|
- |
Non-frameshift Deletion |
9 (3.5%) |
1 (1.7%) |
3 (1.6%) |
4 (12.1%) |
1 (1.1%) |
- |
Splice-site |
18 (7%) |
7 (11.9) |
2 (1.1%) |
2 (6.1%) |
5 (5.6%) |
2 (3.5%) |
Stop-loss |
1 (0.4%) |
- |
|
|
|
1 (1.7%) |
CNV |
9 (3.5%) |
1 (1.7%) |
1 (5.6%) |
1 (3%) |
6 (6.7%) |
- |
Novel/Known |
|
|
|
|
|
|
Known |
168 (65.1%) |
36 (61%)) |
9 (50%) |
18 (54.6%) |
55 (61.1%) |
50 (86.2%) |
Novel |
90 (34.9%) |
23 (39%) |
9 (50%) |
15 (45.4%) |
35 (38.9%) |
8 (13.8%) |