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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients
Clinica Chimica Acta, Volume 412, No. 23-24, Year 2011
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Description
Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the heparan sulfate degradation, with sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), acetyl-coenzyme A: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS) being deficient respectively in MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID. Mutation screening using PCR reaction/sequencing analysis on genomic DNA fragments was performed in seven Tunisian index cases with MPS IIIA, three with MPS IIIB and two with MPS IIIC. QMPSF (Quantitative Multiplex PCR of Short fluorescent Fragments) analysis was developed for the detection of genomic deletions and duplications in the SGSH gene. These approaches allowed the identification of 11 mutations, 8 of them were novel including a mutation involving the start codon (p.Met1?), one small duplication (p.Leu11AlafsX22), one small deletion (p.Val361SerfsX52) and a large deletion of exon 1 to exon 5 in the SGSH gene, one missense mutation (p.Pro604Leu) and one nonsense mutation (p.Tyr558X) in the NAGLU gene and, finally, one missense mutation (p.Trp627Cys) and one nonsense mutation (p.Trp403X) in the HGSNAT gene. © 2011 Elsevier B.V.
Authors & Co-Authors
Ouesleti, Souad
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Tunis
Faculté de Médecine de Tunis
Brunel, V.
France, Mont-saint-aignan
Université de Rouen Normandie
Ben Turkia, Hadhami
Tunisia, Tunis
Hôpital la Rabta
Dranguet, Hélène
France, Mont-saint-aignan
Université de Rouen Normandie
Miled, Abdelhédi
Tunisia, Sousse
Hopital Farhat Hached Sousse
Miladi, Najoua
Tunisia, Tunis
Faculté de Médecine de Tunis
Dridi, Marie Françoise Ben
Tunisia, Tunis
Hôpital la Rabta
Lavoinne, A.
France, Mont-saint-aignan
Université de Rouen Normandie
Saugier-Veber, P.
France, Mont-saint-aignan
Université de Rouen Normandie
Bekri, Soumeya
France, Mont-saint-aignan
Université de Rouen Normandie
Statistics
Citations: 10
Authors: 10
Affiliations: 4
Identifiers
Doi:
10.1016/j.cca.2011.08.032
ISSN:
00098981
e-ISSN:
18733492
Research Areas
Cancer
Genetics And Genomics
Study Approach
Quantitative