Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
dc.contributor.author | Van Damme, Tim | |
dc.contributor.author | Colige, Alain | |
dc.contributor.author | Syx, Delfien | |
dc.contributor.author | Giunta, Cecilia | |
dc.contributor.author | Lindert, Uschi | |
dc.contributor.author | Rohrbach, Marianne | |
dc.contributor.author | Aryani, Omid | |
dc.contributor.author | Alanay, Yasemin | |
dc.contributor.author | Simsek-Kiper, Pelin Ozlem | |
dc.contributor.author | Kroes, Hester Y. | |
dc.contributor.author | Devriendt, Koen | |
dc.contributor.author | Thiry, Marc | |
dc.contributor.author | Symoens, Sofie | |
dc.contributor.author | De Paepe, Anne | |
dc.contributor.author | Malfait, Fransiska | |
dc.date.accessioned | 2023-02-21T12:40:52Z | |
dc.date.available | 2023-02-21T12:40:52Z | |
dc.date.issued | 2016-01-01 | |
dc.description.abstract | Purpose: 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.abstract | and 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.abstract | c.669\_670dupG, p.(Pro224Argfs{*}24) | |
dc.description.abstract | and 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.issue | 9 | |
dc.description.issue | SEP | |
dc.description.pages | 882-891 | |
dc.description.volume | 18 | |
dc.identifier.doi | 10.1038/gim.2015.188 | |
dc.identifier.uri | https://hdl.handle.net/11443/2660 | |
dc.identifier.uri | http://dx.doi.org/10.1038/gim.2015.188 | |
dc.identifier.wos | WOS:000382423300006 | |
dc.publisher | NATURE PUBLISHING GROUP | |
dc.relation.ispartof | GENETICS IN MEDICINE | |
dc.subject | ADAMTS2 | |
dc.subject | ADAMTS-2 | |
dc.subject | dermatosparaxis type | |
dc.subject | Ehlers-Danlos | |
dc.subject | syndrome | |
dc.subject | genotype | |
dc.subject | phenotype | |
dc.title | Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type | |
dc.type | Article |
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