Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). The aim of the present study was to identify the molecular basis of MLD in Tunisian population. Two Tunisian patients with late infantile MLD were studied. Both patients were homozygous for a new missense mutation that causes a substitution of Trp in Gly p.W124G. This is the first mutation of ARSA gene described in Tunisian population.
Dorboz
Imen
I
Child Neurological Diseases Unit, Faculty of Medicine, Tunis, Tunisia. dorboz@yahoo.fr
Eymard-Pierre
Eleonore
E
Kefi
Rym
R
Abdelhak
Sonia
S
Miladi
Najoua
N
Boespflug-Tanguy
Odile
O
D002490:Central Nervous System / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D002553:Cerebroside-Sulfatase / Q000172:deficiency / Q000235:genetics*; D002554:Cerebrosides / Q000378:metabolism; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D014416:Tunisia / Q000208:ethnology
D002554:Cerebrosides; D005819:Genetic Markers; C083015:cerebroside sulfate; D002553:Cerebroside-Sulfatase