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1: J Clin Endocrinol Metab. 1991 Mar;72(3):730-2.Click here to read Links

A hepatic lipase gene mutation associated with heritable lipolytic deficiency.

Hegele RA, Vezina C, Moorjani S, Lupien PJ, Gagne C, Brun LD, Little JA, Connelly PW.

Department of Medicine, St. Michael's Hospital, University of Toronto, Ontario, Canada.

Absent hepatic lipase (HL) activity results in dyslipidemia and premature atherosclerosis. DNA sequencing of the HL gene from subjects with heritable HL deficiency identified a new C to T substitution within exon 8 that in the mature enzyme caused a threonine to methionine change at position 383 (T383M). With a rapid DNA detection method we observed that all 6 individuals with complete HL deficiency from 2 families had the T383M mutation. None of 50 random unrelated unaffected subjects had this mutation. We propose that T383M is specific to families with heritable HL deficiency. Furthermore, structural variation at the HL gene, possibly in combination with other factors, appears to be etiologic in HL deficiency.

PMID: 1671786 [PubMed - indexed for MEDLINE]