Advanced search
1 file | 1.96 MB

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

(2016) GENETICS IN MEDICINE. 18(9). p.882-891
Author
Organization
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; 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); c.669_670dupG, p.(Pro224Argfs*24); 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.
Keywords
syndrome, Ehlers-Danlos, genotype, phenotype, DERMAL COLLAGEN, BOVINE DERMATOSPARAXIS, CONNECTIVE TISSUES, SKULL FRACTURES, NATURAL-HISTORY, MESSENGER-RNAS, HIMALAYAN CAT, PROCOLLAGEN, GENE, PROPEPTIDE, ADAMTS2, ADAMTS-2, dermatosparaxis type

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 1.96 MB

Citation

Please use this url to cite or link to this publication:

Chicago
Van Damme, Tim, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, et al. 2016. “Expanding the Clinical and Mutational Spectrum of the Ehlers-Danlos Syndrome, Dermatosparaxis Type.” Genetics in Medicine 18 (9): 882–891.
APA
Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., et al. (2016). Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. GENETICS IN MEDICINE, 18(9), 882–891.
Vancouver
1.
Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, et al. Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. GENETICS IN MEDICINE. 2016;18(9):882–91.
MLA
Van Damme, Tim et al. “Expanding the Clinical and Mutational Spectrum of the Ehlers-Danlos Syndrome, Dermatosparaxis Type.” GENETICS IN MEDICINE 18.9 (2016): 882–891. Print.
@article{8089003,
  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; 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); c.669_670dupG, p.(Pro224Argfs*24); 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.},
  author       = {Van Damme, Tim and Colige, Alain and Syx, Delfien and Giunta, Cecilia and Lindert, Uschi and Rohrbach, Marianne and Aryani, Omid and Alanay, Yasemin and Simsek-Kiper, Pelin Özlem and Kroes, Hester Y and Devriendt, Koen and Thiry, Marc and Symoens, Sofie and De Paepe, Anne and Malfait, Fransiska},
  issn         = {1098-3600},
  journal      = {GENETICS IN MEDICINE},
  keywords     = {syndrome,Ehlers-Danlos,genotype,phenotype,DERMAL COLLAGEN,BOVINE DERMATOSPARAXIS,CONNECTIVE TISSUES,SKULL FRACTURES,NATURAL-HISTORY,MESSENGER-RNAS,HIMALAYAN CAT,PROCOLLAGEN,GENE,PROPEPTIDE,ADAMTS2,ADAMTS-2,dermatosparaxis type},
  language     = {eng},
  number       = {9},
  pages        = {882--891},
  title        = {Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type},
  url          = {http://dx.doi.org/10.1038/gim.2015.188},
  volume       = {18},
  year         = {2016},
}

Altmetric
View in Altmetric
Web of Science
Times cited: