Lipids & metabolic liver disease
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency
Authors' conclusion
These patients may represent the first individuals with DECR1 deficiency, then defining within MASLD an autosomal-recessive entity, well corresponding to the reported steatotic liver disease in Decr1 knockout mice. DECR1 may need to be considered in the genetic work-up of MASLD.
Study context
- Population
- 7 and 10 year old siblings with MASLD, one without classical risk factors and one with T2D2 siblings
- Outcome
- Genetic and phenotypic findings
Methodological detailsexome sequencing, transcript and protein analysis, Exome sequencing in proband, both parents and both siblings
- Exome sequencing
- Transcript and protein analysis
- Exome sequencing in proband, both parents and both siblings
Main finding
As reported in the abstract
Homozygous DECR1 splice-site variant
c.330+3A>T
Original publication
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency. Int J Obes (Lond). Published 14 September 2024. doi:10.
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