Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia.

ABSTRACT:

Introduction

Homozygous familial hypercholesterolaemia (HoFH) carries a grave prognosis but is often underdiagnosed and undertreated. Confirmation of molecular diagnosis helps in planning effective management and determining prognosis accurately. Aim of the study: To determine the spectrum of mutations in the LDLR gene in a cohort of children with a clinical diagnosis of HoFH.

Material and methods

Genomic DNA was extracted from peripheral blood samples of 8 patients, who were children of either sex, aged under 16 years, and diagnosed clinically with HoFH using the Simon Broome criteria. The potential variants in the LDLR gene were analysed by Sanger sequencing.

Results

Fifty variations were found in the 8 patients; 39 (78%) were single nucleotide variations while 8 (1

SUBMITTER: Singh S 

PROVIDER: S-EPMC10227482 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature