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

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Tim Van DammeFransiska Malfait

Abstract

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. We report on five new EDS dermatosparaxis patients and provide a comprehensive overview of the current knowledge of the natural history of this condition. 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. 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 cli...Continue Reading

References

Oct 1, 1992·The Journal of Pediatrics·W WerteleckiP Byers
Nov 1, 1974·The Journal of Heredity·R Hanset, C M Lapiere
Mar 1, 1974·The Journal of Pathology·M Fjolstad, O Helle
Dec 10, 1971·European Journal of Biochemistry·A LenaersC M Lapière
Feb 1, 1980·The Journal of Investigative Dermatology·K A HolbrookG A Hegreberg
Feb 1, 1980·The Journal of Investigative Dermatology·D F CountsG A Hegreberg
Jan 1, 1995·Clinical Dysmorphology·W ReardonM Baraitser
Jan 10, 1997·American Journal of Medical Genetics·A FujimotoD H Cohn
Jun 16, 2001·The Journal of Biological Chemistry·R J FernandesS S Apte
Dec 14, 2001·The Journal of Biological Chemistry·Alain ColigeBetty V Nusgens
Mar 21, 2003·The Journal of Biological Chemistry·Wei-Man WangDaniel S Greenspan
Sep 13, 2003·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·P J De CosterA De Paepe
Sep 25, 2004·American Journal of Medical Genetics. Part a·Fransiska MalfaitAnne De Paepe
Apr 15, 2008·American Journal of Medical Genetics. Part a·Cecilia GiuntaBeat Steinmann
Nov 1, 2008·American Journal of Medical Genetics. Part a·Omer Bar-YosefJacob Kuint

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Citations

Mar 18, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela F BradyFransiska Malfait
Oct 6, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sanne D'hondtFransiska Malfait
Oct 11, 2019·Human Molecular Genetics·Bernadette C HoldenerRobert S Haltiwanger
Jul 7, 2020·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Cortney GensemerRussell A Norris
Mar 4, 2019·Archives of Dermatological Research·Francesca CortiniAlessandra Bassotti
Aug 1, 2020·Nature Reviews. Disease Primers·Fransiska MalfaitPeter H Byers
Oct 16, 2020·Clinical Genetics·Aude BeyensBert Callewaert
Dec 29, 2020·American Journal of Medical Genetics. Part a·Jacob SteinleMerlin G Butler
Apr 6, 2021·Frontiers in Molecular Biosciences·Cédric LeducMourad Bekhouche
May 5, 2021·The Journal of Cell Biology·Nicola L StevensonDavid J Stephens
Nov 20, 2021·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Fransiska MalfaitDelfien Syx

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