Hepatic Lipase Deficiency
A number sign (#) is used with this entry because of evidence that hepatic lipase deficiency is caused by compound heterozygous mutation in the LIPC gene (151670) on chromosome 15q21.Description
Hepatic lipase deficiency is characterized by premature atherosclerosis, elevated total cholesterol, triglycerides (TG), and very low density lipoprotein (VLDL), as well as TG-rich low density lipoprotein (LDL) and HDL subfractions (summary by Hegele et al., 1991).Clinical Features
Breckenridge et al. (1982) reported 2 brothers with deficiency of hepatic lipase (less than 2% of normal activity) with associated lipoprotein abnormalities. Both had an unusually large proportion of plasma triglyceride in low density and high density lipoproteins. One of the brothers developed angina pectoris at age 43 and had eruptive and palmar xanthomas as well as corneal arcus.
Little and Connelly (1986) and Carlson et al. (1986) reported HL deficiency. Preliminary studies with RFLPs of HL in 1 family suggested that the deficiency was not associated with a mutation at the HL structural locus (cited by Sparkes et al., 1987).Mapping
HL deficiency is caused by mutation in the LIPC gene, which Gross (2011) mapped to chromosome 15q21.3.Molecular Genetics
In 6 individuals with complete HL deficiency (614025) from 2 unrelated families, Hegele et al. (1991) identified a heterozygous mutation in the LIPC gene (T383M; 151670.0001) that was not found in 50 controls. Hegele et al. (1991) identified a second mutation in the LIPC gene (S267F; 151670.0002) in the 3 affected individuals from 1 of the families, and Ruel et al. (2003) identified a second mutation in LIPC (A174T; 151670.0002) in affected members of the other family.