Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Table 1 Baseline characteristics of individual patients with Morquio A syndrome

ID	GALNS pathogenic variants		Sex	Age (years)	Height z-score^b	Adult height (m)^a	Elosulfase alfa treatment	Phenotype^c
Founder pathogenic variant group
1	1171A>G	121A>T	M	43	− 4.1	1.47	No	NC
3	1171A>G	901G>T	F	23	− 5.8	1.23	Yes	NC
7	1171A>G	1171A>G	F	25	− 4.8	1.25	Yes	NC
17	1171A>G	405_422+1del	F	60	− 6.8	1.19	No	NC
18	1171A>G	841_867_del	F	36	− 4.3	1.36	Yes	NC
20	1171A>G	1171A>G	F	14	− 2.5	–	Yes	NC
21	1171A>G	405_422 + 1del	F	58	− 6.5	1.25	Yes	NC
22	1171A>G	121A>T	M	7	− 7.8	–	Yes	I
24	1171A>G	121A>T	M	45	− 6.1	1.32	Yes	I
26	1171A>G	1354T>A	M	21	− 1.6	1.67	Yes	NC
27	1171A>G	1354T>A	F	17	− 1.6	–	Yes	NC
29	1171A>G	404_422del19	F	17	− 5.4	–	Yes	NC
30	1171A>G	1157G>A	M	36	− 6.1	1.32	Yes	I
31	1171A>G	1171A>G	M	40	− 4.9	1.39	Yes	NC
32	1171A>G	121A>T	F	40	− 5.5	1.27	No	NC
33	1171A>G	1171A>G	M	23	− 3.1	1.41	No	NC
34	1171A>G	1171A>G	F	16	− 1.4	–	Yes	NC
Non-founder pathogenic variant group
2	244+1G>T	901G>T	M	27	− 7.5	1.21	Yes	C
4	901G>T	121A>T	M	12	− 7.6	–	Yes	C
5	901G>T	121A>T	M	10	− 4.6	–	Yes	I
6	901G>T	704C>A	F	9	− 7.1	–	Yes	C
8	901G>T	319G>A	M	16	− 6.7	–	Yes	C
9	121A>T	841_867_del	F	63	− 6.9	1.05	Yes	I
11	901G>T	405_422+1_del	M	27	− 11.1	0.92	Yes	C
12	901G>T	405_422+1_del	M	25	− 10.4	0.98	Yes	C
13	901G>T	121A>T	F	35	− 8.0	1.15	Yes	NC
14	1157G>A	1157G>A	M	15	− 5.6	–	No	C
15	1157G>A	1157G>A	M	21	− 11.0	0.92	No	C
16	1157G>A	1157G>A	M	19	− 11.5	–	No	C
19	244T>C	244T>C	F	20	− 1.9	1.36	Yes	NC
23	901G>T	901G>T	M	5	− 5.2	–	Yes	C
25	406_424del19	1480A>G	M	15	− 7.2	–	Yes	C
28	938C>T	938TC>T	M	16	− 7.8	–	Yes	C

Bold indicates a homozygote founder pathogenic variant
Patient 10 withdrew consent and is therefore not included in the analysis
1171A>G: founder pathogenic variant; F: female; GALNS: N-acetylgalactosamine-6-sulfatase gene; ID: patient identification number; M: male; NA: not available
^aAdult height is only presented for patients ≥ 18 years of age
^bZ-score was calculated at https://apps.cpeg-gcep.net/quickZ_WHO
^cPhenotypes were determined based on Morquio A-specific growth charts [23]: patients were classified as classical (C) when height was ≤ 50th % ile, as intermediate (I) when height was > 50th and < 75th %ile, and as non-classical (NC) when height was ≥ 75th %ile

ISSN: 1750-1172