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Papers of the Week

2022 Feb 04

J Pediatr Gastroenterol Nutr

MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy with Normal Gamma-glutamyl Transferase Phenotype.


Matarazzo L, Bianco A M, Athanasakis E, Sciveres M, Francalanci P, Cenacchi G, Maggiore G, d'Adamo A P
J Pediatr Gastroenterol Nutr. 2022 Feb 04.
PMID: 35129155.


Progressive Familial Intrahepatic Cholestasis, is an expanding group of autosomal recessive intrahepatic cholestatic disorders. Recently, Next Generation Sequencing allowed identifying new genes responsible for new specific disorders. Two biochemical phenotypes have been identified according to gamma-glutamyltransferase (GGT) activity. Mutations of the myosin 5B gene (MYO5B) are known to cause Microvillus Inclusion Disease. Recently, different mutations in MYO5B gene have been reported in patients with low-GGT cholestasis.