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Establishing The Relationship Between Mendelian Nafld And Skin Pathology, Anthony Medvedev, Hassan Vahidnezhad, Phd, Leila Youssefian, Phd, Jouni Uitto, Md, Phd

Phase 1

Introduction:

It is estimated that 25% of the world’s population has some form of Nonalcoholic Fatty Liver Disease (NAFLD), a pathology associated with the development of cirrhosis, varices, and hepatocellular carcinoma. The discovery of a biallelic mutation in ABHD5 established the link between NAFLD and Chanarin-Dorfman syndrome. Consequently, it was hypothesized that additional NAFLD-inducing mutations could be associated with dermatologic manifestations.

Methods:

International NAFLD patients from consanguineous families underwent whole exome sequencing. These results were then filtered by frequency and pathogenicity prediction algorithms (e.g. Mutation Taster, Polyphen, CADD) to yield novel mutations. Concurrently, a literature review via PubMed identified …