Journal article
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
S Zampieri, M Filocamo, A Pianta, S Lualdi, L Gort, MJ Coll, R Sinnott, T Geberhiwot, B Bembi, A Dardis
Human Mutation | Wiley: 12 months | Published : 2016
DOI: 10.1002/humu.22923
Open access
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 identified SMPD1 variants. Among them, 185 have been found in NPA/B patients. Disease-causing variants are equally distributed along the SMPD1 gene; most of them are missense (65.4%) or frameshift (19%) mutations. The most frequently reported mutation worldwide is the p.R610del, clearly associated with an attenuated NP disease type B phenotype. The available information about the impact of 52 SMPD1 variants on ASM ..
View full abstractGrants
Awarded by European Commission
Funding Acknowledgements
We would like to thank the members of the Niemann-Pick Disease Registry (NPDR) Consortium: Toni Mathieson (Niemann-Pick Disease Group - UK); Jim Green and Miriam Evans (European section of the International Niemann-Pick Disease Alliance (INPDA); Ellen Crushell and Eithna Lofty (Children's University Hospital, Dublin); Eugen Mengel, Hans Klunemann, Lisa Peintinger, Pascal Webber, Miriam Stampfer(Niemann-Pick Selbsthilfe-gruppe Deutschland, Germany); Martin HrebIcek (First Faculty of Medicine, Czech Republic); Isabel Hontanilla, Enrique Pilar, Mercedes Pineda (Fundacion Niemann-Pick de Espana, Spain); Marie T. Vanier (INSERM Unit 820, Lyon, France). Some samples were obtained from the "Cell Line and DNA Biobank from patients affected by Genetic Diseases" (Istituto Giannina Gaslini), member of Telethon Network of Genetic Biobanks (project no. GTB12001).