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Table 2 Patient characteristics

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

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