A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 1511-1512, 2012.
Article
in English
| WPRIM
| ID: wpr-324946
ABSTRACT
Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene (SMPD1). Here we present molecular findings for two sibling patients. One mutation V36A due to c.107T>C in exon 1 is a single nucleotide polymorphism and the other N522S due to c.1565 A>G in exon 6 is a novel missense mutation. This non-fatal missense mutation leads to –20% residual lysosomal acid sphingomyelinase activity in vitro and only results in hepatosplenomegaly without neurologic involvement.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Sphingomyelin Phosphodiesterase
/
Mutation, Missense
/
Polymorphism, Single Nucleotide
/
Siblings
/
Niemann-Pick Disease, Type B
/
Genetics
Limits:
Female
/
Humans
Language:
English
Journal:
Chinese Medical Journal
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS