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Annals of Hematology

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01-07-2009 | Letter to the Editor

A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann–Pick disease

Authors: Min-Yu Lan, Shyh-Jer Lin, Ying-Fa Chen, Cheng-Huei Peng, Yu-Fan Liu

Published in: Annals of Hematology | Issue 7/2009

Excerpt

Dear Editor, …

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Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel E, Backes J, Kustermann-Kuhn B, Bruchelt G, van Diggelen OP, Mayrhofer H, Krägeloh-Mann I (2003) Niemann–Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Neuropediatrics 34:301–306, doi:10.1055/s-2003-44668 PubMedCrossRef

da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH (1991) Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1–p15.4. Genomics 9:229–234, doi:10.1016/0888-7543(91)90246-B PubMedCrossRef

Dardis A, Zampieri S, Filocamo M, Burlina A, Bembi B, Pittis MG (2005) Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. Hum Mutat 26:164, doi:10.1002/humu.9353 PubMedCrossRef

Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH (2002) The demographics and distribution of type B Niemann–Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet 71:1413–1419, doi:10.1086/345074 PubMedCrossRef

Kölzer M, Ferlinz K, Bartelsen O, Hoops SL, Lang F, Sandhoff K (2004) Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase. Biol Chem 385:1193–1195, doi:10.1515/BC.2004.154 PubMedCrossRef

Seto M, Whitlow M, McCarrick MA, Srinivasan S, Zhu Y, Pagila R, Mintzer R, Light D, Johns A, Meurer-Ogden JA (2004) A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase. Protein Sci 13:3172–3186, doi:10.1110/ps.04966204 PubMedCrossRef

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Title: A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann–Pick disease
Authors: Min-Yu Lan
Shyh-Jer Lin
Ying-Fa Chen
Cheng-Huei Peng
Yu-Fan Liu
Publication date: 01-07-2009
Publisher: Springer-Verlag
Published in: Annals of Hematology / Issue 7/2009
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-008-0648-8

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