First Description of Complete Deletion of the Lipoprotein Lipase Gene

Introduction: Lipoprotein lipase (LPL) deficiency is a rare genetic disorder. Patients with this deficiency have extremely high plasma triglycerides (chylomicrons-type V) and subsequent recurrent pancreatitis. We describe the first complete deletion of the gene.

Methods: A 36 year old woman of North-African ancestry was clinically diagnosed at early childhood as having LPL deficiency. She was treated with strict short chain fatty acids diet and reached adulthood with minimal complications. Genotyping for LPL deficiency was done by sequencing the coding region and flanking introns of the LPL gene and by using CGH array for potential deletion or insertion.

Results: DNA was extracted from peripheral leukocytes using salt precipitation techniques. Primers were designed using primer 3 web application. All PCR reactions failed. CGH array was positive for homozygote complete deletion of the gene explaining the negative PCR results.

Conclusions: To the best of our knowledge we describe the first complete deletion of the LPL gene. Since there is a new genetic therapy for this rare disease understanding of it`s genetic profile in the Israeli population is important. Other patients of North-African ancestry with extremely high plasma triglycerides should be genotyped for this deletion.