| Autor: |
S, Khedhiri, L, Chkioua, S, Ferchichi, H, Bouzidi, A, Haj Khelil, R, Ben Mansour, A, Kassab, S, M'dallah, M, Chaabouni, T, Jrad, J, Ben Chibani, A, Miled, S, Laradi |
| Jazyk: |
francouzština |
| Rok vydání: |
2006 |
| Předmět: |
|
| Zdroj: |
Annales de biologie clinique. 65(1) |
| ISSN: |
0003-3898 |
| Popis: |
Mucopolysaccharidosis type IV A (MPS IV A) is an autosomal recessive disorder resulting from the deficient activity of the lysosomal enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS) and the progressive lysosomal accumulation of keratane sulfate. Clinically, the MPS IV A differs from the other MPS by the localisation of the keratane sulfate in skelet and in eyes associated to the conservation of a normal intelligence. To date, the characterization and purification of the GALNS gene made a research for pathogenic mutations in patients with MPS IV A easier. These mutations are responsible of severe, intermediate or mild phenotype. The aim for this work was the research of clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients who were offsprings of consanguineous mating. Enzymatic and urinary diagnostics suggested a MPS IV A phenotype. A novel homozygous mutation IVS1+1G-A was identified by direct sequencing in the GALNS gene of the two patients. Identification of GALNS mutations provide genotype/phenotype correlations and permit the precision of anomalies responsible of Morquio A phenotype in concerned families. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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