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Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations
D. Aldrian, GF. Vogel, TK. Frey, H. Ayyıldız Civan, AÜ. Aksu, Y. Avitzur, E. Ramos Boluda, M. Çakır, AM. Demir, C. Deppisch, HC. Duba, G. Düker, P. Gerner, J. Hertecant, J. Hornová, S. Kathemann, J. Koeglmeier, A. Koutroumpa, R. Lanzersdorfer, R....
Language English Country Switzerland
Document type Journal Article
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16678
Oesterreichische Nationalbank
18019
Oesterreichische Nationalbank
0404/2386
Tiroler Wissenschaftsförderung
NLK
Free Medical Journals
from 2012
PubMed Central
from 2012
Europe PubMed Central
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ProQuest Central
from 2019-01-01
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Health & Medicine (ProQuest)
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from 2012
PubMed
33525641
DOI
10.3390/jcm10030481
Knihovny.cz E-resources
- Publication type
- Journal Article MeSH
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.
1st Department of Pediatrics Athens University Medical School 11527 Athens Greece
Aghia Sofia Children's Hospital Neonatal Intensive Care Unit B 115 27 Athens Greece
Ankara Child Health and Diseases Training and Research Hospital Neonatology 06120 Ankara Turkey
Austrian Drug Screening Institute ADSI 6020 Innsbruck Austria
Children's Hospital Tübingen 72076 Tübingen Germany
Department of Neonatology Johannes Kepler University Linz A 4020 Linz Austria
Department of Pediatrics 1 Medical University of Innsbruck A 6020 Innsbruck Austria
Department of Pediatrics University of Oxford Oxford OX3 9DU UK
Division of Cell Biology Biocenter Innsbruck Medical University A 6020 Innsbruck Austria
Division of Cell Biology Medical University of Innsbruck A 6020 Innsbruck Austria
Division of Human Genetics Medical University of Innsbruck A 6020 Innsbruck Austria
Emma Children's Hospital AMC 1105 Amsterdam The Netherlands
Genetics Metabolics Service Tawam Hospital Al Ain 15258 United Arab Emirates
Hospital Universitario San Vicente de Paúl Medellín Antioquia 50022 Colombia
Institute of Histology and Embryology Medical University of Innsbruck A 6020 Innsbruck Austria
Paediatrics at the Medical Faculty Université de Paris 75005 Paris France
Pediatric Gastroenterology Shaare Zedek Medical Center 9103102 Jerusalem Israel
SW Thames Regional Genetics Service St George's University NHS Foundation Trust London SW17 0QT UK
Translational Gastroenterology Unit University of Oxford Oxford OX3 9DU UK
Unidade de Gastrenterologia Pediátrica Centro Hospitalar do Porto 4099 001 Porto Portugal
References provided by Crossref.org
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