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Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency
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 DECR1 in patient liver. Conclusions: 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. © The Author(s) 2024.
Authors : Kohlmaier B.; Skok K.; Lackner C.; Haselrieder G.; Müller T.; Sailer S.; Zschocke J.; Keller M.A.; Knisely A.S.; Janecke A.R.
Source : Springer Nature
Article Information
| Year | 2024 |
| Type | Article |
| DOI | 10.1038/s41366-024-01634-z |
| ISSN | 03070565 |
| Volume | 48 |
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