Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)

Open Access

24 September 2003

journal article
mutation in-brief
Published by Hindawi Limited in Human Mutation

Vol. 22 (5) , 418-419
https://doi.org/10.1002/humu.9190

Abstract

Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A (ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed by comprehensive nucleotide sequencing of the ARSA gene to detect rare or private mutations. Here we report the identification of nine novel microlesions in the ARSA gene: five missense mutations (c.464C>T, c.542T>A, c.916T>C, c.973G>A, c.1286A>C), three frameshift mutations (c.205_206delTG, c.489_495del, c.1483_1486dup), and one splice donor site mutation (c.973+1G>A). Comprehensive mutation detection has facilitated carrier detection and prenatal diagnosis for several at-risk MLD families.

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