Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Leong, Huey Yin; Abdul Azize, Nor Azimah; Chew, Hui Bein; Keng, Wee Teik; Thong, Meow Keong; Mohd Khalid, Mohd Khairul Nizam; Hung, Liang Choo; Mohamed Zainudin, Norzila; Ramlee, Azura; Md Haniffa, Muzhirah Aisha; Yakob, Yusnita; Ngu, Lock Hock

doi:10.1186/s13023-019-1105-6

Orphanet Journal of Rare Diseases

Table 1 Clinical and molecular characteristics of Malaysian MPS IVA patients

From: Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Pt	Sex	Ethnicity	Age at first symptoms, years	Age at diagnosis, years	Current age, years	Height, cm	Height z-score	6-MWT, metres	Assistive device	GALNS gene mutation
Pt	Sex	Ethnicity	Age at first symptoms, years	Age at diagnosis, years	Current age, years	Height, cm	Height z-score	6-MWT, metres	Assistive device	1st Allele	2nd Allele
1	F	Malay	0.2	2	3.4	91	−1.81	NP	None	c.502G>T	c.503G>T
2	F	Malay	1	1.7	3.4	78.8	−4.85	NP	None	c.473_477delAGTGG	c.1364+1G>A
3	F	Malay	2	4	4	85.8	−3.93	246.95	None	c.647T>C	c.958G>A
4	F	Malay	4	6	6	97	−3.54	300	None	c.812T>C	c.950G>A
5	M	Indian	2	3.9	8.8	90	−6.99	183	None	c.235T>C	c.235T>C
6	M	Malay	2	4	9.3	85.3	−7.98	296	None	c.1523T>C	c.812T>C
7^a	F	Chinese	5	6.2	10.1	97	−6.58	96	Wheelchair	c.953T>G	c.106_111delCTGCTC
8	F	Malay	2	5	12.3	88	−9.44	278	Wheelchair	c.463G>A	mutation not found
9^b	F	Malay	0.5	5.7	14	95.5	− 9.26	NP	None	NP	NP
10	F	Chinese	1	2	15.5	92.5	−10.20	219	Wheelchair	c.398A>C	c.106_111delCTGCTC
11^b	F	Malay	1	8	16	97	−9.65	NP	Wheelchair	NP	NP
12^a	F	Chinese	3	6	16.7	89	−10.98	50	Wheelchair	NP	NP
13	M	Indian	3	7.8	16.8	124	−6.62	50	Walker	c.218A>G	c.551G>A
14	F	Chinese	2	11	17.4	93	−10.51	21.5	Walker, Wheelchair	c.346G>A	mutation not found
15^c	F	Malay	1	10	18.3(died)	85	−11.86	Cannot walk	Wheelchair	NP	NP
16^a	F	Chinese	6	7.7	21.6	99.5	−9.73	48	Wheelchair	c.953T>G	c.106_111delCTGCTC
17^d	M	Malay	6	12	22.5	116	−8.29	Cannot walk	Wheelchair	c.953T>G	mutation not found
18	M	Indian	2	18	25	97	−10.9	Cannot walk	Wheelchair, BIPAP	c.647T>C	c.647T>C
19^c	M	Malay	1	3	26.4	87	−12.3	Cannot walk	Wheelchair	c.473_477delAGTGG	c.1364+1G>A
20	F	Chinese	2	4	26.9	92.8	−10.76	259.2	Walker, Wheelchair	c.512A>C	c.106_111delCTGCTC
21^d	F	Malay	8	17	30.9	83	−12.25	50.7	Wheelchair	c.953T>G	mutation not found

Current age, denotes age at recruitment
^{a, b, c, d}, denotes respective siblings
Abbreviations: 6-MWT 6-min walk test; BIPAP bi-level positive pressure breathing assistance; del Deletion, F Female, M Male, NP Not performed, Pt Patients

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ISSN: 1750-1172

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