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Keutel Syndrome, a review of 50 years of literature

2021-04Journal article Open access
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dc.contributor.authorCancela, M. Leonor
dc.contributor.authorLaizé, Vincent
dc.contributor.authorConceição, Natércia
dc.contributor.authorKempf, Hervé
dc.contributor.authorMurshed, Monzur
dc.date.accessioned2021-05-24T13:04:42Z
dc.date.available2021-05-24T13:04:42Z
dc.date.issued2021-04
dc.description.abstractKeutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Patients with KS are usually diagnosed during childhood (early onset of the disease), and the major traits include abnormal calcification of cartilaginous tissues resulting in or associated with malformations of skeletal tissues (e.g., midface hypoplasia and brachytelephalangism) and cardiovascular defects (e.g., congenital heart defect, peripheral pulmonary artery stenosis, and, in some cases, arterial calcification), and also hearing loss and mild developmental delay. While studies on Mgp-/- mouse, a faithful model of KS, show that pathologic mineral deposition (ectopic calcification) in cartilaginous and vascular tissues is the primary cause underlying many of these abnormalities, the mechanisms explaining how MGP prevents abnormal calcification remain poorly understood. This has negative implication for the development of a cure for KS. Indeed, at present, only symptomatic treatments are available to treat hypertension and respiratory complications occurring in the KS patients. In this review, we summarize the results published in the last 50 years on Keutel syndrome and present the current status of the knowledge on this rare pathology.pt_PT
dc.description.sponsorshipCA-16115 - EJPRD2019-290 - UIDB/04326/2020pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.3389/fcell.2021.642136pt_PT
dc.identifier.issn2296-634X
dc.identifier.urihttp://hdl.handle.net/10400.1/15495
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Media SApt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectMatrix gla proteinpt_PT
dc.subjectPeripheral pulmonary stenosispt_PT
dc.subjectK-dependent carboxylasept_PT
dc.subjectMGP expressionpt_PT
dc.subjectBreast-cancerpt_PT
dc.subjectFollow-uppt_PT
dc.subjectCalcificationpt_PT
dc.subjectDeficiencypt_PT
dc.subjectMutationspt_PT
dc.subjectPromoterpt_PT
dc.titleKeutel Syndrome, a review of 50 years of literaturept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage642136pt_PT
oaire.citation.titleFrontiers in Cell and Developmental Biologypt_PT
oaire.citation.volume9pt_PT
person.familyNameCancela
person.familyNameLaizé
person.familyNameConceição
person.givenNameM. Leonor
person.givenNameVincent
person.givenNameNatércia
person.identifier.ciencia-id7C11-760D-F425
person.identifier.orcid0000-0003-3114-6662
person.identifier.orcid0000-0001-9565-9198
person.identifier.orcid0000-0002-5057-0912
person.identifier.ridB-4463-2008
person.identifier.scopus-author-id6602982778
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationb9bbfe32-3dfe-4131-ad14-a4394008447f
relation.isAuthorOfPublicationb51cd3d5-7ee4-47d8-9bc4-b3e297aa222f
relation.isAuthorOfPublication62064ac0-1f34-407d-96b7-b7074325a84e
relation.isAuthorOfPublication.latestForDiscoveryb9bbfe32-3dfe-4131-ad14-a4394008447f

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