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). |