Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency

The Netherlands Journal of Medicine
S M BijvoetJ J Kastelein

Abstract

Two missense mutations in exon 6 of the LPL gene were identified on separate alleles in a Dutch patient with lipoprotein lipase (LPL) deficiency. The first mutation is a G1003-->A transition resulting in a D250N mutation, which has been shown previously to result in a catalytically defective protein in patients of French-Canadian ancestry. The second mutation, a C to G transition at nucleotide 1007, predicts a S251C residue change in the highly conserved region of LPL surrounding the loop structure the covers the catalytic triad. This mutation constitutes a novel defect among LPL gene mutations reported so far. Site-directed mutagenesis experiments provide in-vitro evidence for the complete loss of LPL activity resulting from this latter missense mutation. The G1003-->A nucleotide substitution underlying the Asp250 mutation deletes a TaqI endonuclease recognition site and the C1007-->G change that leads to the S251C alteration abolishes a HinfI recognition site. This will facilitate rapid screening for these mutations in LPL-deficient patients.

Citations

Nov 2, 2005·Human Gene Therapy·Jaap RipJanneke M Meulenberg
Apr 9, 2016·Journal of Clinical Lipidology·Rute RodriguesJohn D Brunzell
Oct 24, 1998·Endocrinology and Metabolism Clinics of North America·S Santamarina-Fojo
May 21, 2013·Arteriosclerosis, Thrombosis, and Vascular Biology·Mohammad Mahdi MotazackerG Kees Hovingh
Jun 15, 2007·FEMS Microbiology Letters·Vlasta CtrnáctáIvan Hrdý

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