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

2021Journal article Open access
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dc.contributor.authorAldrian, Denise
dc.contributor.authorVogel, Georg F.
dc.contributor.authorFrey, Teresa K.
dc.contributor.authorAyyıldız Civan, Hasret
dc.contributor.authorAksu, Aysel Ünlüsoy
dc.contributor.authorAvitzur, Yaron
dc.contributor.authorRamos Boluda, Esther
dc.contributor.authorÇakır, Murat
dc.contributor.authorDemir, Arzu Meltem
dc.contributor.authorDeppisch, Caroline
dc.contributor.authorDuba, Hans-Christoph
dc.contributor.authorDüker, Gesche
dc.contributor.authorGerner, Patrick
dc.contributor.authorHertecant, Jozef
dc.contributor.authorHornová, Jarmila
dc.contributor.authorKathemann, Simone
dc.contributor.authorKoeglmeier, Jutta
dc.contributor.authorKoutroumpa, Arsinoi
dc.contributor.authorLanzersdorfer, Roland
dc.contributor.authorLev-Tzion, Raffi
dc.contributor.authorLima, Rosa
dc.contributor.authorMansour, Sahar
dc.contributor.authorMeissl, Manfred
dc.contributor.authorMelek, Jan
dc.contributor.authorMiqdady, Mohamad
dc.contributor.authorMontoya, Jorge Hernan
dc.contributor.authorPosovszky, Carsten
dc.contributor.authorRachman, Yelena
dc.contributor.authorSiahanidou, Tania
dc.contributor.authorTabbers, Merit
dc.contributor.authorUhlig, Holm H.
dc.contributor.authorÜnal, Sevim
dc.contributor.authorWirth, Stefan
dc.contributor.authorRuemmele, Frank M.
dc.contributor.authorHess, Michael W.
dc.contributor.authorHuber, Lukas A.
dc.contributor.authorMüller, Thomas
dc.contributor.authorSturm, Ekkehard
dc.contributor.authorJanecke, Andreas R.
dc.date.accessioned2022-11-10T10:41:12Z
dc.date.available2022-11-10T10:41:12Z
dc.date.issued2021
dc.description.abstractMyosin 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.pt_PT
dc.description.sponsorshipThis research was funded by Jubiläumsfonds der Österreichischen Nationalbank, grant no.16678 (to A.R.J.), grant no. 18019 (to G.-F.V.) and Tiroler Wissenschaftsfonds, grant No. 0404/2386 (toG.-F.V.).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAldrian D, Vogel GF, Frey TK, et al. Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. J Clin Med. 2021;10(3):481. doi:10.3390/jcm10030481pt_PT
dc.identifier.doi10.3390/jcm10030481pt_PT
dc.identifier.issn2077-0383
dc.identifier.urihttp://hdl.handle.net/10400.16/2744
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/2077-0383/10/3/481pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectYO5Bpt_PT
dc.subjectPFICpt_PT
dc.subjectcongenital diarrheal diseasespt_PT
dc.subjectenteropathypt_PT
dc.subjectgenotype–phenotype correlationpt_PT
dc.subjectlack of proteinpt_PT
dc.subjectmicrovillus inclusion diseasept_PT
dc.subjectmyosin Vbinpt_PT
dc.subjectprogressive familial intrahepatic cholestasispt_PT
dc.subjecttail domainpt_PT
dc.titleCongenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutationspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage481pt_PT
oaire.citation.titleJournal of Clinical Medicinept_PT
oaire.citation.volume10pt_PT
person.familyNameLima
person.givenNameRosa
person.identifier.ciencia-id521E-731E-4E24
person.identifier.orcid0000-0001-7841-5490
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication99b87142-9e88-4bb6-b7e0-e60b2bbeb2f0
relation.isAuthorOfPublication.latestForDiscovery99b87142-9e88-4bb6-b7e0-e60b2bbeb2f0

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