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Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. 2021
Denise Aldrian, and
Georg F Vogel, and
Teresa K Frey, and
Hasret Ayyıldız Civan, and
Aysel Ünlüsoy Aksu, and
Yaron Avitzur, and
Ester Ramos Boluda, and
Murat Çakır, and
Arzu Meltem Demir, and
Caroline Deppisch, and
Hans-Christoph Duba, and
Gesche Düker, and
Patrick Gerner, and
Jozef Hertecant, and
Jarmila Hornová, and
Simone Kathemann, and
Jutta Koeglmeier, and
Arsinoi Koutroumpa, and
Roland Lanzersdorfer, and
Raffi Lev-Tzion, and
Rosa Lima, and
Sahar Mansour, and
Manfred Meissl, and
Jan Melek, and
Mohamad Miqdady, and
Jorge Hernan Montoya, and
Carsten Posovszky, and
Yelena Rachman, and
Tania Siahanidou, and
Merit Tabbers, and
Holm H Uhlig, and
Sevim Ünal, and
Stefan Wirth, and
Frank M Ruemmele, and
Michael W Hess, and
Lukas A Huber, and
Thomas Müller, and
Ekkehard Sturm, and
Andreas R Janecke
Department of Pediatrics I, Medical University of Innsbruck, A-6020 Innsbruck, Austria.
Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.
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