ArticleAmerican journal of human genetics2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34citing papers in PubMed
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34 citing papers in PubMed, 65 citations in OpenAlex.
- Odevixibat treatment for recurrent cholestasis in a patient with biallelic UNC45A variants causing osteo-oto-hepato-enteric syndrome.JHEP reports : innovation in hepatology · 2026Article
- Microvillus inclusion disease-associated MYO5B deficiency impairs endosome-to-mitochondrion iron transfer.Gastroenterology report · 2026Article
- Primary human intestinal organoids with biallelic UNC45A variants suggest role of cystic fibrosis transmembrane conductance regulator in pathogenesis of UNC45A-related intestinal disorder.Journal of pediatric gastroenterology and nutrition · 2026Article
- MYO1B in human disease: an actin-based motor linking membrane trafficking to oncogenic signaling, metastasis, and vascular aging.Frontiers in oncology · 2026Review
- Distinct impacts of human co-chaperone UNC45 paralogs on Drosophila muscle development and function.Journal of cell science · 2025Article
- A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.Molecular genetics & genomic medicine · 2025Review
- Alazami syndrome with a single LARP7 variant and concurrent osteo-oto-hepato-enteric syndrome: A case of complex genetic interplay.Radiology case reports · 2025Article
- Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.JCI insight · 2025Article
- The expanding clinical and genetic spectrum of DYNC1H1-related disorders.Brain : a journal of neurology · 2025Article
- Newly Described Mutations of theCurrent pediatric reviews · 2025Article
- Myosin Vb Traffics P-Glycoprotein to the Apical Membrane of Intestinal Epithelial Cells.Gastroenterology · 2025Article
- Microvillous Inclusion Disease: An Exceedingly Rare Condition With a New Treatment.ACG case reports journal · 2024Article
- The myosin chaperone UNC-45 has an important role in maintaining the structure and function of muscle sarcomeres during adult aging.Molecular biology of the cell · 2024Article
- Modeling the cell biology of monogenetic intestinal epithelial disorders.The Journal of cell biology · 2024Review
- Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Hepatology international · 2024Article
- Review
- The Ovary-Brain Connection.Cells · 2024Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders.Human genetics · 2023Article
- A CRISPR screen in intestinal epithelial cells identifies novel factors for polarity and apical transport.eLife · 2023Article
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Authors and funding
37 authors at 15 institutions in 3 countries.
Clothilde EsteveAix Marseille Univ, INSERM, MMG, 13385 Marseille, France.
Ludmila FrancescattoCenter for Human Disease Modeling, Duke University, Durham, NC, USA.
Perciliz L TanCenter for Human Disease Modeling, Duke University, Durham, NC, USA; Department of Cell Biology, Duke University Medical Center, Durham, NC 27701, USA.
Aurélie BourchanyEquipe GAD, UMR1231 Inserm, Université de Bourgogne Franche Comté, 21079 Dijon, France; Service de Pédiatrie, Hôpital D'Enfants, CHU, 21000 Dijon, France.
Cécile De LeusseService de pédiatrie multidisciplinaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Evelyne MarinierService des maladies digestives et respiratoires de l'enfant, Hôpital Robert Debré, APHP, 75019 Paris, France.
Arnaud BlanchardAix Marseille Univ, INSERM, MMG, 13385 Marseille, France.
Patrice BourgeoisAix Marseille Univ, INSERM, MMG, 13385 Marseille, France; Service de biologie moléculaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Céline Brochier-ArmanetUniv Lyon, Université Claude Bernard Lyon 1, CNRS, Laboratoire de Biométrie et Biologie Évolutive (UMR CNRS / Lyon 1 5558), 69622 Villeurbanne, France.
Ange-Line BruelEquipe GAD, UMR1231 Inserm, Université de Bourgogne Franche Comté, 21079 Dijon, France.
Arnauld DelarueService de pédiatrie multidisciplinaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Yannis DuffourdEquipe GAD, UMR1231 Inserm, Université de Bourgogne Franche Comté, 21079 Dijon, France; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD, CHU, 21000 Dijon, France.
Emmanuelle Ecochard-DugelayService des maladies digestives et respiratoires de l'enfant, Hôpital Robert Debré, APHP, 75019 Paris, France.
Géraldine HeryService de pédiatrie multidisciplinaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Frédéric HuetService de Pédiatrie, Hôpital D'Enfants, CHU, 21000 Dijon, France.
Philippe GauchezService de pédiatrie multidisciplinaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Emmanuel GonzalesPediatric hepatology and pediatric liver transplantation unit and National Reference Centre for rare pediatric liver diseases, Hepatinov, Bicêtre Universitary Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, 94800 Villejuif, France; Inserm, UMR-S1174, Hepatinov, University of Paris-Sud 11, 91405 Orsay, France.
Catherine Guettier-BouttierPathology Unit, Bicêtre Universitary Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, 94800 Villejuif, France.
Mina KomutaAnatomopathology Department, Cliniques Universitaires Saint-Luc, 1200 Brussels, Belgium.
Caroline LacosteService de biologie moléculaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Raphaelle MaudinasService de Pédiatrie, Hôpital D'Enfants, CHU, 21000 Dijon, France.
Karin MazodierInternal medicine and clinical, Hôpital Conception, APHM, 13005 Marseille, France.
Yves RimetService de Pédiatrie-Néonatologie, Centre Hospitalier Intercommunal Aix-Pertuis, 13616 Aix en Provence, France.
Jean-Baptiste RivièreEquipe GAD, UMR1231 Inserm, Université de Bourgogne Franche Comté, 21079 Dijon, France.
Bertrand RoquelaureService de pédiatrie multidisciplinaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Sabine SigaudyDépartement de Génétique Médicale, Hôpital de la Timone Enfants de La Timone, APHM, 13385 Marseille, France.
Xavier StephenneUniversité catholique de Louvain, Cliniques universitaires St Luc, Département de pédiatrie, Service de gastroentérologie et hépatologie pédiatrique, 1200 Bruxelles, Belgique.
Christel Thauvin-RobinetEquipe GAD, UMR1231 Inserm, Université de Bourgogne Franche Comté, 21079 Dijon, France; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD, CHU, 21000 Dijon, France.
Julien ThevenonEquipe GAD, UMR1231 Inserm, Université de Bourgogne Franche Comté, 21079 Dijon, France.
Jacques SarlesService de pédiatrie multidisciplinaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Nicolas LevyAix Marseille Univ, INSERM, MMG, 13385 Marseille, France; Service de biologie moléculaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Catherine BadensAix Marseille Univ, INSERM, MMG, 13385 Marseille, France; Service de biologie moléculaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France.
Olivier GouletDepartment of Pediatric Gastroenterology, Hepatology and Nutrition, Reference center for Rare Digestive Diseases; Hôpital Necker; University Paris-Cité-Sorbonne; Paris-Descartes Medical School, 75006 Paris, France.
Jean-Pierre HugotService des maladies digestives et respiratoires de l'enfant, Hôpital Robert Debré, APHP, 75019 Paris, France.
Nicholas KatsanisCenter for Human Disease Modeling, Duke University, Durham, NC, USA; Department of Cell Biology, Duke University Medical Center, Durham, NC 27701, USA.
Laurence FaivreEquipe GAD, UMR1231 Inserm, Université de Bourgogne Franche Comté, 21079 Dijon, France; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD, CHU, 21000 Dijon, France.
Alexandre FabreAix Marseille Univ, INSERM, MMG, 13385 Marseille, France; Service de pédiatrie multidisciplinaire, Hôpital de la Timone Enfants, APHM, 13385 Marseille, France. Electronic address: alexandre.fabre@univ-amu.fr.
Hôpital de la Timone · FRInserm · FRAix-Marseille Université · FRAssistance Publique – Hôpitaux de Paris · FRHôpital d'Enfants · FRCliniques Universitaires Saint-Luc · BEDuke University · USBicêtre Hospital · FRCentre Hospitalier du Pays d'Aix · FRCentre National de la Recherche Scientifique · FRDélégation Paris 5 · FRDuke Medical Center · USHôpital de la Conception · FRHôpital Robert-Debré · FRUniversité de Bourgogne · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss-of-function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function.
Indexed as
AdolescentAnimalsBone and BonesChild, PreschoolCholestasisDiarrheaFamilyFemaleFibroblastsGastrointestinal MotilityHearing LossHumansInfant, NewbornIntracellular Signaling Peptides and ProteinsLoss of Function MutationLymphocytesIntracellular Signaling Peptides and ProteinsUNC45A protein, humanGCUNC-45
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