Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

@inproceedings{Chkioua2011MolecularAO,
  title={Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms},
  author={Latifa Chkioua and Souhir Khedhiri and Asma Kassab and Amina Bibi and Salima Ferchichi and Roselyne Froissart and Christine Vianey-Saban and Sandrine Laradi and Abdelh{\'e}di Miled},
  booktitle={Diagnostic pathology},
  year={2011}
}
UNLABELLED Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates. The disease has severe and milder phenotypic subtypes. The aim of this study was the detection of mutations in the IDUA gene from 12 additional MPS I patients with various clinical phenotypes (severe, 8 cases; intermediate, 3 cases; mild, 1 case). PATIENTS AND METHODS… CONTINUE READING

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Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
ExonsNo subtypeIntrons
In this study , the IDUA mutations in eight unrelated Tunisian families were performed by amplifying and sequencing the IDUA exons and intron - exon jonctions .
IntronsNo subtypeExons
In this study , the IDUA mutations in eight unrelated Tunisian families were performed by amplifying and sequencing the IDUA exons and intron - exon jonctions .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
This paper , showed a heterogeneous pattern of mutations and polymorphisms among Tunisian patients .
This paper , showed a heterogeneous pattern of mutations and polymorphisms among Tunisian patients .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
IDUA geneGene encodes gene productL-Iduronidase
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha - L - iduronidase ( IDUA ) which is involved in the degradation of dermatan and heparan sulfates .
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