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

• Published in: Human mutation Vol. 37; no. 2; pp. 139 - 147
• Main Authors: Zampieri, Stefania, Filocamo, Mirella, Pianta, Annalisa, Lualdi, Susanna, Gort, Laura, Coll, Maria Jose, Sinnott, Richard, Geberhiwot, Tarekegn, Bembi, Bruno, Dardis, Andrea
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.02.2016; Hindawi Limited
• Subjects: acid sphingomyelinase; Databases, Genetic; Exons; Gene Expression; Genes, Recessive; Genetic Association Studies; Genetic counseling; Genetic disorders; Genotype; Genotype & phenotype; Humans; Introns; lysosomal storage disorder; Mutation; Niemann-Pick; Niemann-Pick Disease, Type A - diagnosis; Niemann-Pick Disease, Type A - genetics; Niemann-Pick Disease, Type A - pathology; Niemann-Pick Disease, Type B - diagnosis; Niemann-Pick Disease, Type B - genetics; Niemann-Pick Disease, Type B - pathology; Open Reading Frames; Phenotype; RNA Splicing; RNA, Messenger - genetics; SMPD1; Sphingomyelin Phosphodiesterase - genetics; lysosomal storage disorder; SMPD1; acid sphingomyelinase; Niemann-Pick

ABSTRACT 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 identifie...