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Hum Mutat. 2016 Jan;37(1):16-27. doi: 10.1002/humu.22919. Epub 2015 Nov 4.

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

Author information

1
San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
2
Vita-Salute San Raffaele University, Milan, Italy.
3
Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.
4
Neurology Department, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
5
Clinical Molecular Biology Laboratory, San Raffaele Hospital, Milan, Italy.

Abstract

Metachromatic leukodystrophy is a neurodegenerative disorder characterized by progressive demyelination. The disease is caused by variants in the ARSA gene, which codes for the lysosomal enzyme arylsulfatase A, or, more rarely, in the PSAP gene, which codes for the activator protein saposin B. In this Mutation Update, an extensive review of all the ARSA- and PSAP-causative variants published in the literature to date, accounting for a total of 200 ARSA and 10 PSAP allele types, is presented. The detailed ARSA and PSAP variant lists are freely available on the Leiden Online Variation Database (LOVD) platform at http://www.LOVD.nl/ARSA and http://www.LOVD.nl/PSAP, respectively.

KEYWORDS:

ARSA; PSAP; arylsulfatase A; metachromatic leukodystrophy; mutation; saposin B

PMID:
26462614
DOI:
10.1002/humu.22919
[Indexed for MEDLINE]

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