| Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. | |
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MedLine Citation:
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PMID: 23252888 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Niemann-Pick disease (NPD) types A and B are autosomal, recessively inherited, lysosomal storage disorders caused by deficient activity of acid sphingomyelinase (ASM, E.C. 3.1.4.12) due to mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. Here we present the molecular analysis and clinical characteristics of 15 NPD type A and B patients. Sequencing the SMDP1 gene revealed eight previously described mutations, and seven novel mutations including four missense [c.682T>C (p.Cys228Arg), c.1159T>C (p.Cys387Arg), c.1474G>A (p.Gly492Ser), and c.1795C>T (p.Leu599Phe)], one frameshift [c.169delG (p.Ala57Leufs*20)] and two splicing [c.316+1G>T and c.1341delG]. The most frequent mutations were p.Arg610del (21%) and p.Gly247Ser (12%). Two patients homozygous for p.Arg610del and initially classified as phenotype B showed different clinical manifestations. Patients homozygous for p.Leu599Phe had phenotype B, and those homozygous for c.1341delG or c.316+1G>T presented phenotype A. The present results provide new insight into genotype/phenotype correlations in NPD, and emphasize the difficulty of classifying patients into types A and B, supporting the idea of a continuum between these two classic phenotypes. |
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Authors:
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P Irun; M Mallén; C Dominguez; V Rodriguez-Sureda; LA Alvarez-Sala; N Arslan; N Bermejo; C Guerrero; I Perez de Soto; L Villalón; P Giraldo; M Pocovi |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-12-17 |
Journal Detail:
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Title: Clinical genetics Volume: - ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2012 Dec |
Date Detail:
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Created Date: 2012-12-20 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2012 John Wiley & Sons A/S. |
Affiliation:
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Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain; Instituto de Investigación Sanitaria de Aragón (IIS), Zaragoza, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Zaragoza, Barcelona, Spain. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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