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Table 3 Genotypes of newborns with positive MPS 4A screening

From: Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

No

Genotype

DBS activity (% of normal mean)

Leukocyte activity

(% of normal mean)

uKS

1

c.857C > T (p.T286 M) Ho*

0.38 (18)

19.48 (12)

1.47

2

c.857C > T (p.T286 M) Ho

0.24 (11)

19.81 (12)

0.87

3

c.1567 T > G (p.*523Eext*92)/c.1496C > T (p.P499L)

0.12 (6)

2.46 (2)

2.52

4

c.953 T > G(p.M318R) Ho

0.01 (0)

–

–

5

c.857C > T (p.T286 M)/ c.887C > T (p.A296V)

0.28 (13)

–

–

6

c.1019G > A (p.G340D)/ c.1108C > T (p.P370S)

0.31 (14)

12.33 (8)

2.45

7

c.953 T > G (p.M318R) He

0.22 (10)

16.44 (10)

0.60

8

c.857C > T (p.T286 M) He

0.28 (13)

15.44 (10)

0.73

9

c.190_191delinsAT (p.A64I) He

0.26 (12)

22.77 (14)

0.20

10

c.1127G > A (p.R376Q) Het

0.14 (6)

4.90 (3)

1.78

11

c.1177G > T (p.A393S) Het

0.39 (18)

14.25 (9)

1.26

12

c.1019G > A (p.G340D) He

0.26 (12)

10.51 (7)

1.48

  1. Normal range: for DBS activity: normal mean 2.17 uM/hr.; for Leukocyte activity: 158.9 ± 82.8 nmol/mg Prot/17 h; for uKS: < 0.98 ng/ug Cre
  2. *patients on treatment. One clinical case has leukocyte activity as 2.81 (2% of normal mean) and uKS as 3.73 ng/ug Cre before treatment
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172