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

(2016) GENETICS IN MEDICINE. 18(9). p.882-891
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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

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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.
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.
Chicago author-date
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.
Chicago author-date (all authors)
Van Damme, Tim, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Simsek-Kiper, Hester Y Kroes, Koen Devriendt, Marc Thiry, Sofie Symoens, Anne De Paepe, and Fransiska Malfait. 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.
IEEE
[1]
T. Van Damme et al., “Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type,” GENETICS IN MEDICINE, vol. 18, no. 9, pp. 882–891, 2016.
@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},
}

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