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%)