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Table 2 Biochemical and molecular MPS II profiles in Tunisian patients

From: The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

Patients IDP1P2P3P4P5P6P7P8P9P10P11P12
SexMMMMMMMFMMMM
Consanguinityunrelated1st cousins3rd cousinsunrelated1st cousinsunrelatedunrelated1st cousinsunrelatedunrelatedunrelated1st cousins
OriginTunisSfaxKairouanSousseTunisSfaxBejaMonastirSousseSousseMahdiaSousse
Urine GAGs1 mg/g/creatinine93.430.095.048.056.810511612528.465.823.383.9
Age at diagnosis (years/months)41 /64634/ 24323912
Actual age of patients (years)41822265579 (died)9 (died)19 (died)29 (died)39 (died)
Leukocytes IDS activity (nmol/h/mg protein)0.200.200.500.000.7500.000.000.390.0590.000.651.5
Mutationsc.240 + 1 G > Ap.R88PEx1_7delap.Q396*p.G94Dp.D450Nfs*95p.Q204*p.R88PbNone foundNone foundNone foundNone found
LocationINTRON 2EXON 3*EXON 9EXON 3EXON9EXON 5EXON 3
Restriction enzyme(−) ECO64I(−) ACC II(−) Cac8I(−) BseNI(−) BamHI(−) Cac8I(−) ACC IIThese patients were dead before our molecular analysis.
Fragment length (bp)N: 373
M: 180 + 193
N: 91 + 432
M: 523
N: 49 + 54 + 119 + 333
M: 95 + 119 + 173
N: 37 + 46 + 109 + 331
M: 37 + 155 + 331
N: 137 + 303
M: 440
N: 200 + 280N: 91 + 432
M: 523
StatusreportedreportedreportedreportedreportedNovelNovelreported
Reference[11][12][10][11][4]This reportThis report[12]
Polymorphisms c.419–16 delT; c.641C > T (p.T214M); c.438 C > T (p.T146T); c.709-87G > A; c.1006 + 38 T > Cnonenonec.419–16 delT; c.641C > T (p.T214M); c.438 C > T (p.T146T); c.709-87G > A; c.1006 + 38 T > Cc.419–16 delT; c.641C > T (p.T214M); c.438 C > T (p.T146T); c.709-87G > A; c.1006 + 38 T > Cc.419–16 delT; c.641C > T (p.T214M); c.438 C > T (p.T146T); c.709-87G > A; c.1006 + 38 T > C  
PhenotypeseveresevereSeveresevereMildsevereSeveresevere 
  1. 1Urine GAGs: normal value GAGs
  2. a: at position 1,307,880 (GenBank NT:019686), and the distal deletion breakpoint was located at position 1,346,697
  3. N Normal sequence; M Mutated sequence.
  4. b: According to his phenotype, it can be presumed that the P8 was homozygous for p.R88P mutation.
  5. * indicates the stop codon according the standard nomenclature of the nonsense mutation