Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.

ABSTRACT:

Background & aims

Non-alcoholic fatty liver disease (NAFLD) is a multifactorial condition and the most common liver disease worldwide, affecting more than one-third of the population. So far there have been no reports on mendelian inheritance in families with NAFLD.

Methods

We performed whole-exome or targeted next-generation sequencing on patients with autosomal dominant NAFLD.

Results

We report a heritable form of NAFLD and/or dyslipidemia due to monoallelic ABHD5 mutations, with complete clinical expression after the fourth decade of life, in 7 unrelated multiplex families encompassing 39 affected individuals. The prevalence of ABHD5-associated NAFLD was estimated to be 1 in 1,137 individuals in a normal population.

Conclusion

We associate a Mendelian form o

SUBMITTER: Youssefian L 

PROVIDER: S-EPMC7285838 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature