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Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
Author(s) -
Cesani Martina,
Lorioli Laura,
Grossi Serena,
Amico Giulia,
Fumagalli Francesca,
Spiga Ivana,
Filocamo Mirella,
Biffi Alessandra
Publication year - 2016
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22919
Subject(s) - metachromatic leukodystrophy , arylsulfatase a , biology , gene , genetics , mutation , leukodystrophy , disease , biochemistry , medicine , pathology
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.