Skip to main content
Erschienen in: Annals of Hematology 7/2009

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

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

Erschienen in: Annals of Hematology | Ausgabe 7/2009

Einloggen, um Zugang zu erhalten

Excerpt

Dear Editor, …
Literatur
1.
Zurück zum Zitat Schuchman EH, Desnick RJ (2001) Niemann-Pick disease type A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Childs B, Valle D, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3589–3610 Schuchman EH, Desnick RJ (2001) Niemann-Pick disease type A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Childs B, Valle D, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3589–3610
2.
Zurück zum Zitat 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 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
3.
Zurück zum Zitat 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 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
4.
Zurück zum Zitat 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 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
5.
Zurück zum Zitat 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 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
6.
Zurück zum Zitat 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 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
7.
Zurück zum Zitat 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 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
8.
Zurück zum Zitat Perisic O, Paterson HF, Mosedale G, Lara-González S, Williams RL (1999) Mapping the phospholipid-binding surface and translocation determinants of the C2 domain from cytosolic phospholipase A2. J Biol Chem 274:14979–14987, doi:10.1074/jbc.274.21.14979 PubMedCrossRef Perisic O, Paterson HF, Mosedale G, Lara-González S, Williams RL (1999) Mapping the phospholipid-binding surface and translocation determinants of the C2 domain from cytosolic phospholipase A2. J Biol Chem 274:14979–14987, doi:10.​1074/​jbc.​274.​21.​14979 PubMedCrossRef
Metadaten
Titel
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann–Pick disease
verfasst von
Min-Yu Lan
Shyh-Jer Lin
Ying-Fa Chen
Cheng-Huei Peng
Yu-Fan Liu
Publikationsdatum
01.07.2009
Verlag
Springer-Verlag
Erschienen in
Annals of Hematology / Ausgabe 7/2009
Print ISSN: 0939-5555
Elektronische ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-008-0648-8

Weitere Artikel der Ausgabe 7/2009

Annals of Hematology 7/2009 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.