Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
Article Details
- CitationCopy to clipboard
Olkhovich NV, Takamura N, Pichkur NA, Gorovenko NG, Aoyagi K, Yamashita S
Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
Mol Genet Metab. 2003 Nov;80(3):360-3.
- PubMed ID
- 14680985 [ View in PubMed]
- Abstract
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA) or saposin B. The majority of mutations identified in patients with MLD are unique within individual families. Here, we report on the novel missense mutations (F247S, D381E, and A469G) and the known mutations "A" allele and P136S in the ARSA gene in three unrelated Ukrainian families with MLD. The mutations F247S and P136S were found in compound heterozygous with the "A" allele in two patients with juvenile onset MLD. The clinical features of the typical patient with genotype D381E/A469G (early onset with very rapid manifestation of disease) suggest the reason to distinguish an early infantile MLD variant.