Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.

ABSTRACT:

Background

Metabolic dysfunction-associated steatotic liver disease (MASLD) is considered multifactorial with a number of predisposing gene polymorphisms known.

Methods

The occurrence of MASLD in 7 and 10 year old siblings, one without classical risk factors and one with type 2 diabetes suggested a monogenic etiology and prompted next-generation sequencing. Exome sequencing was performed in the proband, both parents and both siblings. The impact of a likely disease-causing DNA variant was assessed on the transcript and protein level.

Results

Two siblings have hepatomegaly, elevated serum transaminase activity, and steatosis and harbor a homozygous DECR1 splice-site variant, c.330+3A>T. The variant caused DECR1 transcript decay. Immunostaining demonstrated lack of DECR

SUBMITTER: Kohlmaier B 

PROVIDER: S-EPMC11584395 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature