ArticleJournal of clinical medicine2021
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Article in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 52 citations in OpenAlex.
- Myosin 5b deficiency alters liver proliferation, zonation, and bile acid composition.Hepatology communications · 2026Article
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis.Hepatology communications · 2025Article
- Cargo adaptors use a handhold mechanism to engage with myosin V for organelle transport.The Journal of cell biology · 2025Article
- Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.Clinical genetics · 2025Article
- Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series.Orphanet journal of rare diseases · 2025Article
- Congenital enteropathy caused by ezrin deficiency.Human genetics · 2025Article
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant.Frontiers in gastroenterology (Lausanne, Switzerland) · 2025Article
- Pediatric Chronic Intestinal Failure: Something Moving?Nutrients · 2024Review
- Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.The American journal of clinical nutrition · 2024Review
- The role of syntaxins in retinal function and health.Frontiers in cellular neuroscience · 2024Review
- Microvillus Inclusion Disease Caused byJPGN reports · 2023Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Splicing Analysis ofHuman mutation · 2023Article
- Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.Frontiers in medicine · 2023Article
- Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.Frontiers in pharmacology · 2023Review
- Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal.Healthcare (Basel, Switzerland) · 2022Review
- Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report.JNMA; journal of the Nepal Medical Association · 2022Article
- Fetal Bowel Abnormalities Suspected by Ultrasonography in Microvillus Inclusion Disease: Prevalence and Clinical Significance.Journal of clinical medicine · 2022Article
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Authors and funding
39 authors at 20 institutions in 15 countries.
Funding
Abstract
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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