Article
APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.
BMC medical genetics - 15 Nov 2012
Dussaillant Catalina, Serrano Valentina, Maiz Alberto, Eyheramendy Susana, Cataldo Luis Rodrigo, Chavez Matías, Smalley Susan V, Fuentes Marcela, Rigotti Attilio, Rubio Lorena, Lagos Carlos F, Martinez José Alfredo, Santos José Luis
Abstract excerpt
BACKGROUND: Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim...
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