[Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients].
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.
Khedhiri
S
S
Laboratoire de Biochimie, CHU Hached, Sousse, Tunisie.
Chkioua
L
L
Ferchichi
S
S
Bouzidi
H
H
Haj Khelil
A
A
Ben Mansour
R
R
Kassab
A
A
M'dallah
S
S
Chaabouni
M
M
Jrad
T
T
Ben Chibani
J
J
Miled
A
A
Laradi
S
S
D000293:Adolescent; D002811:Chondroitinsulfatases / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D017422:Sequence Analysis, DNA; D035781:Siblings; D014416:Tunisia
D002811:Chondroitinsulfatases; C102295:GALNS protein, human