Please use this identifier to cite or link to this item: http://hdl.handle.net/2067/43604
DC FieldValueLanguage
dc.contributor.authorLeoni, Chiarait
dc.contributor.authorTedesco, Martait
dc.contributor.authorRadio, Francesca Clementinait
dc.contributor.authorChillemi, Giovanniit
dc.contributor.authorLeone, Antonioit
dc.contributor.authorBruselles, Alessandroit
dc.contributor.authorCiolfi, Andreait
dc.contributor.authorStellacci, Emiliait
dc.contributor.authorPantaleoni, Francescait
dc.contributor.authorButera, Gianfrancoit
dc.contributor.authorRigante, Donatoit
dc.contributor.authorOnesimo, Robertait
dc.contributor.authorTartaglia, Marcoit
dc.contributor.authorZampino, Giuseppeit
dc.date.accessioned2021-08-16T17:36:19Z-
dc.date.available2021-08-16T17:36:19Z-
dc.date.issued2021it
dc.identifier.issn1552-4833it
dc.identifier.urihttp://hdl.handle.net/2067/43604-
dc.description.abstractBiallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1 or SEMDJL Beighton type), Al-Gazali syndrome (ALGAZ), and a severe progeroid form of Ehlers-Danlos syndrome (EDSSPD2). In the 2017 Ehlers-Danlos syndrome (EDS) classification, Beta3GalT6-related disorders were grouped in the spondylodysplastic EDSs together with spondylodysplastic EDSs due to B4GALT7 and SLC39A13 mutations. Herein, we describe a patient with a previously unreported homozygous pathogenic B3GALT6 variant resulting in a complex phenotype more severe than spondyloepimetaphyseal dysplasia with joint laxity type 1, and having dural ectasia and aortic dilation as additionally associated features, further broadening the phenotypic spectrum of the Beta3GalT6-related syndromes. We also document the utility of repeating sequencing in patients with uninformative exomes, particularly when performed by using "first generations" enrichment capture methods.it
dc.format.mediumELETTRONICOit
dc.language.isoengit
dc.titleBroadening the phenotypic spectrum of Beta3GalT6-associated phenotypesit
dc.typearticle*
dc.identifier.doi10.1002/ajmg.a.62399it
dc.identifier.pmid34159694it
dc.identifier.scopus2-s2.0-85108317178it
dc.identifier.urlhttps://api.elsevier.com/content/abstract/scopus_id/85108317178it
dc.relation.journalAMERICAN JOURNAL OF MEDICAL GENETICS. PART Ait
dc.subject.scientificsectorAGR/17it
dc.subject.ercsectorLS2_10 Bioinformaticsit
dc.description.internationalnoit
dc.contributor.countryITAit
dc.type.refereeREF_1it
dc.type.miur262*
item.fulltextWith Fulltext-
item.openairetypearticle-
item.cerifentitytypePublications-
item.grantfulltextrestricted-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.journal.journalissn1552-4833-
crisitem.journal.anceE190210-
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