An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

Table 2 Patient characteristics

General information			Genetic characteristics		Biochemical characteristics	Clinical characteristics
Patient ID	Phenotype	Gestational age (weeks + days)	Mutation allele 1	Mutation allele 2	IDUA activity (nmol x mg^-1× hr^-1)	Upper respiratory tract involvement	Inguinal hernia
1	H	37 + 0	p.W402X	p.W402X	0.31	-	+
2	H	38 + 1	p.W402X	p.Q70X	X	-	+
3	H	40 + 0	p.W402X	p.Q70X	X	X	X
4	H	39 + 6	p.W402X	p.W402X	0.25	+	-
5	H	37 + 5	p.W402X	c.134del12	0.26	X	-
6	H	33 + 6	p.Q70X	p.L218P	0.47	X	X
7	H	33 + 1	p.Q70X	p.L218P	0.44	X	X
8	H	38 + 0	p.Q70X	p.L218P	0.58	+	X
9	H	37 + 2	p.Q70X	p.L218P	X	+	-
10	H	X	p.W402X	p.L218P	X	+	X
11	H	33 + 0	p.L218P	p.L218P	X	X	X
12	H	40 + 0	p.L218P	p.L218P	X	+	-
13	H	38 + 3	p.W402X	p.L218P	0.43	+	-
14	H	41 + 1	p.A367E	c.1650del117	X	+	+
15	H	38 + 1	c.494-1G > A	c.494-1G > A	0.23	X	+
16	H	X	p.H425fs	p.H425fs	0.32	X	X
17	H	40 + 0	p.W402X	p.W402X	X	X	X
18	H/S	40 + 0	p.W402X	p.R505G	0.77	+	-
19¹	H/S	38 + 0	p.W402X	p.N348K	0.92	-	-
20¹	H/S	37 + 1	p.W402X	p.N348K	0.95	-	-
21	H/S	41 + 2	p.L218P	p.D315Y	0.35	-	-
22²	H/S	37 + 0	p.P533R	p.P533R	X	-	-
23²	H/S	37 + 0	p.P533R	p.P533R	2.43	-	-
24	S	40 + 0	p.W402X	p.R383H	1.05	-	-
25³	S	40 + 0	p.Q70X	p.R383H	1.17	X	X
26³	S	40 + 0	p.Q70X	p.R383H	X	X	X
27	S	X	p.A327P	p.R383H	1.70	X	X
28⁴	S	40 + 5	c.474-2A > G	p.R383H	X	-	-
29⁴	S	40 + 5	c.474-2A > G	p.R383H	1.61	-	-
30	S	40 + 0	c.474-2A > G	p.R383H	X	-	-

H = Hurler, H/S = Hurler/Scheie, S = Scheie.
+ = present, - = absent, X = data not available or excluded based on prematurity.
^1,3,4: siblings. ²: homozygous twins.

ISSN: 1750-1172