A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis
Carlos J. Pirola, Diego Flichman, Hernán Dopazo, Tomas Fernández Gianotti, Julio San Martino, Cristian Rohr, Martin Garaycoechea, Carla Gazzi, Gustavo O. Castaño, Silvia Sookoian – 5 September 2018 – We report on the presence of a rare nonsense mutation (rs149847328, p.Arg227Ter) in the glucokinase regulator (GCKR) gene in an adult patient with nonalcoholic fatty liver disease (NAFLD), morbid obesity, and type 2 diabetes; this patient developed a progressive histological form of the disease.