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

Annals of Hematology

Volumn 88, Issue 7, 2009, Pages 695-697

  Lan, Min Yu ^a   Lin, Shyh Jer ^b   Chen, Ying Fa ^a   Peng, Cheng Huei ^a   Liu, Yu Fan ^c  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^c CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; SPHINGOMYELIN PHOSPHODIESTERASE;

ABDOMINAL PAIN; ADULT; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; BONE MARROW BIOPSY; BONE PAIN; CASE REPORT; CLINICAL EXAMINATION; DNA EXTRACTION; ECHOGRAPHY; FEVER; GENETIC ANALYSIS; HETEROZYGOSITY; HOSPITAL ADMISSION; HUMAN; LETTER; MALE; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; NIEMANN PICK DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SORE THROAT; SPLENOMEGALY; TAIWAN;

ADULT; BONE MARROW EXAMINATION; EXONS; HUMANS; MALE; MUTATION, MISSENSE; NIEMANN-PICK DISEASE, TYPE B; POINT MUTATION; SPHINGOMYELIN PHOSPHODIESTERASE; TAIWAN;

EID: 67349214384     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-008-0648-8     Document Type: Letter

References (8)

1. 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. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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