ArticleEuropean journal of human genetics : EJHG2016
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).Orphanet journal of rare diseases · 2023Guideline
- Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.JIMD reports · 2026Article
- Review
- Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report.Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia · 2024Article
- Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD).The European journal of health economics : HEPAC : health economics in prevention and care · 2024Article
- Single nucleotide polymorphism rs854560 in paraoxonase-1 regulates the cytodifferentiation of human periodontal ligament cells.Frontiers in dental medicine · 2024Article
- Natural history and management of liver dysfunction in lysosomal storage disorders.World journal of hepatology · 2022Review
- Interstitial lung disease in lysosomal storage disorders.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.Orphanet journal of rare diseases · 2019Article
- Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).Orphanet journal of rare diseases · 2017Review
- Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease.Frontiers in physiology · 2017Review
- Types A and B Niemann-Pick disease.Molecular genetics and metabolismReview
- Mutational spectrum ofPakistan journal of medical sciencesArticle
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
Abstract
Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase (ASM) activity. While numerous variants causing NPDB have been described, only a small number have been studied in any detail. Herein, we describe the frequency of the p.(Ala359Asp) variant in the healthy Chilean population, and determine the haplotype background of homozygous patients to establish if this variant originated from a common founder. Genomic DNA samples from 1691 healthy individuals were analyzed for the p.(Ala359Asp) variant. The frequency of p.(Ala359Asp) was found to be 1/105.7, predicting a disease incidence of 1/44 960 in Chile, higher than the incidence estimated by the number of confirmed NPDB cases. We also describe the clinical characteristics of 13 patients homozygous for p.(Ala359Asp) and all of them had moderate to severe NPDB disease. In addition, a conserved haplotype and shared 280 Kb region around the SMPD1 gene was observed in the patients analyzed, indicating that the variant originated from a common ancestor. The haplotype frequency and mitochondrial DNA analysis suggest an Amerindian origin for the variant. To assess the effect of the p.(Ala359Asp) variant, we transfected cells with the ASM-p.(Ala359Asp) cDNA and the activity was only 4.2% compared with the wild-type cDNA, definitively demonstrating the causative effect of the variant on ASM function. Information on common variants such as p.(Ala359Asp) is essential to guide the successful implementation for future therapies and benefit to patients.
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