What question did this study set out to answer?

To comprehensively identify, catalog, and review all published disease-causing variants in the ARSA and PSAP genes responsible for metachromatic leukodystrophy.

October 14, 2015Human Mutation

Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy

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To comprehensively identify, catalog, and review all published disease-causing variants in the ARSA and PSAP genes responsible for metachromatic leukodystrophy.
Conducted an extensive systematic literature review of all published pathogenic variants in the ARSA and PSAP genes.
Compiled and uploaded variant classifications into public locus-specific repositories on the Leiden Online Variation Database (LOVD) platform.
Identified and cataloged a total of 200 distinct causative ARSA allele types associated with arylsulfatase A deficiency.
Identified and cataloged 10 distinct causative PSAP allele types associated with saposin B deficiency.

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Implication

Systematic review reveals 210 causative ARSA and PSAP genetic variants in metachromatic leukodystrophy, highlighting critical resources for clinical genetic diagnosis.

Cite This Study

Cesani et al. (2015) studied this question.

synapsesocial.com/papers/6a19910205af093a17f64290 https://doi.org/10.1002/humu.22919

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Implication

Systematic review reveals 210 causative ARSA and PSAP genetic variants in metachromatic leukodystrophy, highlighting critical resources for clinical genetic diagnosis.

Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy

Key Points

Discussion

Implication

Cite This Study

Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy

Key Points

Discussion

Implication

Cite This Study

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