Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

ABSTRACT:

Background

Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycolipid and cholesterol trafficking, which could consequently lead to NPC disease with variable phenotypes displaying a broad spectrum of symptoms.

Materials

In the present study 35 Iranian NPC unrelated patients were enrolled. These patients were first analysed by the Filipin Staining test of cholesterol deposits in cells for NPC diagnostics. Genomic DNA was extracted from the samples of peripheral blood leukocytes in EDTA following the manufacturer's protocol. All exon-intron boundaries and coding exons of the NPC1gene were amplified by polymerase chain rea

SUBMITTER: Abtahi R 

PROVIDER: S-EPMC8793247 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature