Table 1 Characteristics of the Tunisian MPS IH families
From: Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Family | Family 1 | Family 2 | Family 3 | Family 4 | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mother | Father | Patient 1 | Mother | Father | Patient 2 | Mother | Father | Patient 3 | Mother | Father | Patient 4 | |
Consanguinity | 2nd cousins | Unrelated | 1st cousins | 2nd cousins | ||||||||
Tunisian Origin | Nabeul | Elmaamoura | Korba | Oued Ellil | ||||||||
Sex/age (Years) | 36 | 46 | M/3 | 32 | 40 | F/5 (died) | 37 | 45 | M /3 (died) | 34 | 43 | M/2 |
Leukocyte IDUA Activity μKat/Kg Protein | Unrealized | Unrealized | 0.00 | Unrealized | Unrealized | 0.00 | Unrealized | Unrealized | 0.044 | Unrealized | Unrealized | 0.00 |
Infantile onset | – | – | + | – | – | + | – | – | + | – | + | |
Organomegaly | – | – | Severe | – | – | Severe | – | – | Severe | – | – | Severe |
Bone involvement | – | – | + | – | – | + | – | – | + | – | – | + |
Mental retardation | – | – | Severe | – | – | Severe | – | – | Severe | – | – | Non marked |
Growth retardation | – | – | Marked | – | – | Marked | – | – | Non marked | – | – | Non marked |
Allele 1 | c.1650 + 1G > T | c.1650 + 1G > T | c.1650 + 1G > T | c.1650 + 1G > T | c.1650 + 1G > T | c.1650 + 1G > T | c.1650 + 1G > T | p.A75T | c.1650 + 1G > T | c.1650 + 1G > T | p.R555H | c.1650 + 1G > T |
Position | Intron 11 | Intron 11 | Intron 11 | Intron 11 | Intron 11 | Intron 11 | Intron 11 | Exon 2 | Intron 11 | Intron 11 | Exon 11 | Intron 11 |
Allele 2 | NL | NL | c.1650 + 1G > T | NL | NL | c.1650 + 1G > T | NL | NL | p.A75T | NL | NL | p.R555H |
Position | Intron 11 | Intron 11 | Exon 2 | Exon 11 | ||||||||
Polymorphism | None | None | None | rs141046991 | rs141046991 | rs773947412 | NL | rs773947412 | ||||
rs759123051 | NL | rs759123051 | ||||||||||
rs773184536 | NL | rs773184536 | ||||||||||