A nonsense germline mutation in the LPL gene in a 1-month-old infant: case report with review of literature

Abstract

Primary hypertriglyceridemia (HTG) is a very rare autosomal recessive disorder caused by the mutations of the genes related with triglyceride metabolism, including apolipoproteins and lipoprotein lipase (LPL) among others. Germline mutations in the LPL gene cause familial LPL deficiency with an incidence of about 1:1,000,000. It is often diagnosed in childhood and consanguinity is common.