Table 1

Laboratory and clinical findings of the six MPS I patients

Families

Consanguinity

Tunisian origin

Sex

Age of diagnosis

Age

Leukocyte IDUA activity (% normal)

Mutations identified

Polymorphisms sequences variants


Family 1

Patient 1

3rd cousins

Makthar

F

2 years 5 days

9 years

0.1%

p.Y581X

No polymorphisms


Family 2

Patient 2

2nd cousins

Tunis

F

1 year 6 months

11 years (died)

0.1%

p.F177S

No polymorphisms


Family 3

Patient 3

3rd cousins

Sfax

M

2 years

12 years

0.2%

p.P533R

No polymorphisms


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)


Family 5

Patient 5

3rd cousins

Djerba Island

M

1year 4 months

4 years

0.2%

p.P533R

No polymorphisms


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).


Chkioua et al. Diagnostic Pathology 2011 6:47   doi:10.1186/1746-1596-6-47

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