Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

dc.contributor.authorVan Damme, Tim
dc.contributor.authorColige, Alain
dc.contributor.authorSyx, Delfien
dc.contributor.authorGiunta, Cecilia
dc.contributor.authorLindert, Uschi
dc.contributor.authorRohrbach, Marianne
dc.contributor.authorAryani, Omid
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorSimsek-Kiper, Pelin Ozlem
dc.contributor.authorKroes, Hester Y.
dc.contributor.authorDevriendt, Koen
dc.contributor.authorThiry, Marc
dc.contributor.authorSymoens, Sofie
dc.contributor.authorDe Paepe, Anne
dc.contributor.authorMalfait, Fransiska
dc.date.accessioned2023-02-21T12:40:52Z
dc.date.available2023-02-21T12:40:52Z
dc.date.issued2016-01-01
dc.description.abstractPurpose: The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the amino terminal propeptide domain of types I, II, and III procollagen. Only 10 EDS dermatosparaxis patients have been reported, all presenting a recognizable phenotype with characteristic facial gestalt, extreme skin fragility and. laxity, excessive bruising
dc.description.abstractand sometimes major complications due to visceral and vascular fragility. Methods: We report on five new EDS dermatosparaxis patients and provide a comprehensive overview of the current knowledge of the natural history of this condition. Results: We identified three novel homozygous loss-of-function Mutations (c.2927\_2928delCT, p.(Pro976Argfs{*}42)
dc.description.abstractc.669\_670dupG, p.(Pro224Argfs{*}24)
dc.description.abstractand c.2751-2A>T) and :one compound heterozygous mutation (c.2T>C, p.? and c.884\_887delTGAA, p.(Met295Thrfs26{*})) in ADAMTS2 in five patients from four unrelated families. Three of these displayed a phenotype that was strikingly milder than that of previously reported patients. Conclusion: This study expands the clinical and molecular spectrum of the dermatosparaxis type of EDS to include a milder phenotypic variant and stresses the importance of good clinical criteria. To address this, we propose an updated set:of criteria that accurately captures the multisystemic nature of the dermatosparaxis type of EDS.
dc.description.issue9
dc.description.issueSEP
dc.description.pages882-891
dc.description.volume18
dc.identifier.doi10.1038/gim.2015.188
dc.identifier.urihttps://hdl.handle.net/11443/2660
dc.identifier.urihttp://dx.doi.org/10.1038/gim.2015.188
dc.identifier.wosWOS:000382423300006
dc.publisherNATURE PUBLISHING GROUP
dc.relation.ispartofGENETICS IN MEDICINE
dc.subjectADAMTS2
dc.subjectADAMTS-2
dc.subjectdermatosparaxis type
dc.subjectEhlers-Danlos
dc.subjectsyndrome
dc.subjectgenotype
dc.subjectphenotype
dc.titleExpanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
dc.typeArticle

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