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Inherited Non-Alcoholic Fatty Liver Disease and Dyslipidemia Due to Monoallelic Abhd5 Mutations Publisher Pubmed



Youssefian L1, 2, 3 ; Vahidnezhad H1, 4 ; Saeidian AH1 ; Pajouhanfar S1 ; Sotoudeh S5 ; Mansouri P6 ; Amirkashani D7 ; Zeinali S4, 8 ; Levine MA9 ; Peris K10, 11 ; Colombo R11, 12 ; Uitto J1
Authors
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Authors Affiliations
  1. 1. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, United States
  2. 2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, United States
  4. 4. Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
  5. 5. Department of Dermatology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Department of Pediatrics, Faculty of Medicine, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran
  8. 8. Kawsar Human Genetics Research Center, Tehran, Iran
  9. 9. Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, United States
  10. 10. Institute of Dermatology, Faculty of Medicine, Catholic University, Rome, Italy
  11. 11. IRCCS Policlinico Gemelli – University Hospital, Rome, Italy
  12. 12. Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University, Rome, Italy

Source: Journal of Hepatology Published:2019


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 of NAFLD and/or dyslipidemia with monoallelic ABHD5 mutations. Lay summary: Non-alcoholic fatty liver disease (NAFLD) is a common multifactorial disorder with a strong genetic component. Inherited forms of NAFLD have been suspected but, their molecular pathogenesis has not been disclosed. Here we report a heritable form of NAFLD with clinical expression after 40 years of age, associated with monoallelic ABHD5 mutations. © 2019 European Association for the Study of the Liver
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