Table 1 |
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Laboratory and clinical findings of the six MPS I patients |
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|
Families |
Consanguinity |
Tunisian origin |
Sex |
Age of diagnosis |
Age |
Leukocyte IDUA activity (% normal) |
Mutations identified |
Polymorphisms sequences variants |
|
|
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|
Family 1 Patient 1 |
3rd cousins |
Makthar |
F |
2 years 5 days |
9 years |
0.1% |
p.Y581X |
No polymorphisms |
|
|
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|
Family 2 Patient 2 |
2nd cousins |
Tunis |
F |
1 year 6 months |
11 years (died) |
0.1% |
p.F177S |
No polymorphisms |
|
|
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|
Family 3 Patient 3 |
3rd cousins |
Sfax |
M |
2 years |
12 years |
0.2% |
p.P533R |
No polymorphisms |
|
|
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|
Family 4 Patient 4 |
1st cousins |
Bizerte |
M |
1 year 8 months |
3 years (died) |
< 0.1% |
p.L530fs (1587_1588inGC) |
p.H33Q (c.99 T > G), p.R105Q (c.314G > A), p.N181N (c.543 T > C), IVS5-45 (c.590-45) G > C), IVS5-8 (c.590-8C > T), p.A314A (c.942G > C), IVS7+48(c.972+48A > G), IVS745(c.973- 45G > C), p.A361T (c.1081G > A), p.T388T (c.1164G > C), p.V454I (c.1360G > A), IVS9+36 (c.1402+36T > C), p.R489R (c.1467C > T), IVS12+72 (c.1727T > G) |
|
|
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|
Family 5 Patient 5 |
3rd cousins |
Djerba Island |
M |
1year 4 months |
4 years |
0.2% |
p.P533R |
No polymorphisms |
|
|
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|
Family 6 Patient 6 |
2nd cousins |
Djerba Island |
M |
1 year |
2 years |
0.3% |
p.P533R |
p.A8A (c.24 A > C, p.A20A (c.60G > A); p.Q433Q (c.99T > G), IVS2-44 (c.300 44C > T); p.R105Q (c.314G > A); p.N181N (c.543 T > C), IVS5-45 (c.590-45G > C); IVS5-8 (c.590- 8C > T); p.A314A (c.942G > C); IVS7+48 (c.972+48A > G), IVS7-45 (c.973-45 G > C; p.A361 (Tc.1081G > A); p.T388T (c.116G > C); p.V454I (c.1360G > A); IVS9+36 (c.1402+36T > C), p.R489R (c.1467C > T), IVS12+72 (c.1727T > G), 3'UTR+44 (c.1962+44G > C). |
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|
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|
Chkioua et al. Diagnostic Pathology 2011 6:47 doi:10.1186/1746-1596-6-47 |
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