R542X mutation in SMPD1 gene: Genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

BMJ Case Reports

Volumn , Issue , 2012, Pages

  Aneja, Aradhana ^a   Sharma, Aditi ^a   Dalal, Ashwin ^b   Sondhi, Vishal ^a  

^a ARMED FORCES MEDICAL COLLEGE   (India)

^b CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

Author keywords

[No Author keywords available]

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISEASE CLASSIFICATION; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HISTIOCYTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MOLECULAR PATHOLOGY; NIEMANN PICK DISEASE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SMPD1 GENE;

EID: 84872202877     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr-2012-006959     Document Type: Article

References (6)

1. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase- deficient Niemann-Pick disease. J Inherit Metab Dis 2007;30:654-63.
2. McGovern MM, Schuchman EH. Acid sphingomyelinase deficiency. Gene Rev. http://www.ncbi.nlm.nih.gov/books/NBK1370/ (accessed 0 Jun 2011).
3. da Veiga Pereira L, Desnick RJ, et al. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1-15.4. Genomics 1991;9:229 -34.
4. Simonaro CM, Park JH, Eliyahu E, et al. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. Am J Hum Genet 2006;78:865-70.
5. Michel V, Bakovic M. Lipid rafts in health and disease. Biol Cell 2007;99:129-40.
6. Lee CY, Krimbou L, Vincent J Jr, et al. Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol. Hum Genet 2003;112:552-62.