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SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Human mutation - 1 Feb 2016

Zampieri Stefania, Filocamo Mirella, Pianta Annalisa, Lualdi Susanna, Gort Laura, Coll Maria Jose, Sinnott Richard, Geberhiwot Tarekegn, Bembi Bruno, Dardis Andrea

Abstract excerpt

Niemann-Pick Types A and B (NPA/B) diseases are autosomal recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase (ASM) because of the mutations in the SMPD1 gene. Here, we provide a comprehensive updated review of already reported and newly identified SMPD1 variants. Among them, 185 have been found in NPA/B patients. Disease-causing variants are equally distributed along...

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PMID: 26499107
DOI: 10.1002/humu.22923

Genes

SMPD1

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