A MISSENSE MUTATION (ALA(334)-]THR) IN EXON-7 OF THE LIPOPROTEIN-LIPASE GENE IN A CASE WITH TYPE-I HYPERLIPIDEMIA

The patient is a 34-year-old female. Her fasting plasma triglyceride and cholesterol levels were 7523 mg/dl and 818 mg/dl, respectively, at 35 weeks' gestation. The lipoprotein lipase(LPL) activity and mass from postheparin plasma of the proband were 0.02 (normal range: 5.51±1.12 μ mol/ml/h) and 168 ng/ml (normal range: 220±42 ng/ml), respectively, indicating that the LPL of the patient would be functionally defective LPL. DNA sequence analysis of the LPL gene from the patient revealed a homozygous nucleotide change: A G→A transition at nucleotide position of 1255 resulting in an amino acid substitution of Thr for Ala334. This is the first natural missense mutation identified in exon 7 of the LPL gene. © 1993 Academic Press, Inc.