Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation
Copyright policy )Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation
Niemann-Pick disease (NPD) is a lysosomal storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type A and B is caused by mutations in the sphingomyelin phosphodiesterase gene (SMPD1) coding for ASM. The aim of this study was to evaluate the spectrum of SMPD1 gene mutations in Turkish NPD patients and to study genotype-phenotype associations. We present a molecular analysis of 10 Turkish NPD type A/B patients. Four of the patients had type A and six had type B NPD. All mutant SMPD1 alleles were identified, including 5 different mutations, 1 of which was novel. These mutations included three missense mutations: c.409T>C (p.L137P), c.1262 A>G (p.H421R) and c.1552T>C (p.L549P), a common frameshift mutation in codon 189, identified in three patients, is caused by the deletion of the 567T, introducing a stop codon 65 amino acids downstream (p.P189fsX65), and a novel frameshift mutation c.1755delC (p.P585PfsX24) which was not reported previously.
- Ege University Turkey
Male, Niemann-Pick Diseases, Novel mutation, Turkey, Infant, Newborn, Infant, Exons, SMPD1 gene, Turkish population, Sphingomyelin Phosphodiesterase, Amino Acid Substitution, Child, Preschool, Mutation, Humans, Female, Child, Codon, Niemann-Pick disease, Genetic Association Studies
Male, Niemann-Pick Diseases, Novel mutation, Turkey, Infant, Newborn, Infant, Exons, SMPD1 gene, Turkish population, Sphingomyelin Phosphodiesterase, Amino Acid Substitution, Child, Preschool, Mutation, Humans, Female, Child, Codon, Niemann-Pick disease, Genetic Association Studies
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