LMF1 frameshift deletion in Franches-Montagnes horses with hypertriglyceridemia-induced pancreatitis.

ABSTRACT: Hypertriglyceridemia (HTG) may be inherited and caused by variants in genes encoding enzymes of lipid metabolism. This study was prompted by the observation of eight Franches-Montagnes (FM) foals showing elevated plasma triglyceride levels and episodes of fatal acute pancreatitis. We termed this phenotype hypertriglyceridemia-induced pancreatitis (HIP). The affected foals were distantly related and inbred to a prominent stallion suggesting autosomal recessive inheritance. Whole genome sequencing of an affected foal identified a homozygous loss of function variant in LMF1 encoding lipase maturation factor 1. The variant, XM_023616679.1:c.369_373delinsTCT, leads to an early frameshift and is predicted to alter or truncate 78% of the LMF1 coding sequence. We genotyped the variant in a cohort

SUBMITTER: Drogemuller M 

PROVIDER: S-EPMC12326015 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature