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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
  1. NL normal, F female, M Male