ARSA gene mutation analysis in 5 patients with metachromatic leukodystrophy

Metachromatic leukodystrophyis a kind of lysosomal storage disorder caused by a deficiency in the ARSA enzyme, which is involved in the metabolism of membrane sulfatides into galactosylceramide. ARSA gene mutation analysis is likely to be in increasing demand for the accurate detection of heterozygous carriers and for prenatal diagnosis in families with a metachromatic leukodystrophy proband. This study examined the sequence of the ARSA gene in 7 patients with metachromatic leukodystrophy by exon Sanger sequencing. Eleven mutations were found in the ARSA gene. It was further found that five mutations were probably damaging to the protein activity with a high score and specificity. The results pave the way to a more effective method for career detection , genetic diagnosis, and the counseling of Iranian patients with MLD disorder.