Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

Myosin Vb (MYO5B) is a motor protein that facilitates trafficking and recycling in polarized cells by RAB11- RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified the majority of patients with microvillus inclusion disease (MVID). MVID an intractable diarrhea infantile onset characteristic histopathologic findings requires life-long parenteral nutrition or intestinal transplantation. A large number such eventually develop cholestatic liver disease. Bi-allelic also subset predominant early-onset We present here compilation 114 disease-causing genotypes, including 44 novel as well 35 mutations, analysis regard to functional consequences. Our data support concept (1) complete lack early truncation causes (MYO5B-MVID), (2) expression full-length mutant proteins residual function (MYO5B-PFIC), (3) without both hepatic (MYO5B-MIXED). Genotype-phenotype deposited existing open database order improve diagnosis, prognosis, genetic counseling.