Asset Details
Do you wish to reserve the book?
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
Do you wish to request the book?
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
2016
Overview
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 aminoterminal 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.
Genet Med
18
9, 882–891.
Publisher
Nature Publishing Group US,Elsevier Limited
