Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation

American Journal of Medical Genetics. Part a
Guntram BorckChristian Kubisch

Abstract

The vascular type of Ehlers-Danlos syndrome (EDS IV) is associated with a high risk of life-threatening medical complications, including ruptures of large arteries, the intestine, and the uterus during pregnancy. An arterial rupture occurring in an individual with EDS is regarded as almost diagnostic of EDS IV, which is caused by heterozygous mutations in COL3A1. Here however, we report on a man with skin lesions typical of EDS, easy bruising and recurrent inguinal hernias who had a spontaneous rupture of the left common iliac artery at the age of 42 years but in whom we detected no COL3A1 mutation. As he clinically fulfilled the diagnostic criteria for classic EDS (EDS I), we sequenced the major EDS I gene COL5A1 and identified a heterozygous de novo nonsense mutation, c.3184C>T (p.R1062X). As, to the best of our knowledge, this is the first report of a patient with COL5A1 mutation-positive classic EDS and rupture of a large artery, we suggest that arterial rupture might be a rare complication of classic EDS. This finding has potential implications for genetic counseling and molecular genetic testing in Ehlers-Danlos syndrome.

References

Sep 1, 1973·Annals of the Rheumatic Diseases·P BeightonC L Soskolne
Mar 9, 2000·The New England Journal of Medicine·M PepinP H Byers
Nov 30, 2004·British Journal of Haematology·Anne De Paepe, Fransiska Malfait
Jul 14, 2005·Journal of Vascular Surgery·Gustavo S OderichPeter Gloviczki
Nov 10, 2005·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Fransiska Malfait, Anne De Paepe
Jul 21, 2007·Orphanet Journal of Rare Diseases·Dominique P Germain
Jul 28, 2009·The Annals of Thoracic Surgery·Ioannis K ToumpoulisJames D McCully

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Citations

Aug 30, 2012·European Journal of Human Genetics : EJHG·Eyal ReinsteinWouter I Schievink
Oct 4, 2012·European Journal of Human Genetics : EJHG·Eyal ReinsteinStephen P Robertson
Jun 14, 2013·Case Reports in Pediatrics·Amel Karaa, Joan M Stoler
Apr 8, 2015·American Journal of Medical Genetics. Part a·Glen R MonroeAnnette F Baas
May 2, 2013·American Journal of Medical Genetics. Part a·Brenda D BarajasEyal Reinstein
Feb 4, 2012·American Journal of Medical Genetics. Part a·K de LeeuwJ B F Hulscher
May 29, 2016·Cirugía española·Miriam Paredes QuilesPascual Parrilla
Jan 20, 2017·Nature Reviews. Cardiology·Aline VerstraetenBart Loeys
Feb 14, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jessica M BowenClair A Francomano
Oct 6, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sanne D'hondtFransiska Malfait
Jun 26, 2018·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Alexander MakatsariyaNatalya Makatsariya
Sep 25, 2017·BMJ Case Reports·Masahide TokueMasato Nakamura
May 30, 2020·Journal of Medical Genetics·Chloe AngwinNeeti Ghali
Jun 12, 2013·Annals of Surgery·David BergqvistAnders Wanhainen
Oct 3, 2020·JBJS Reviews·Majd MarrachePaul D Sponseller
May 2, 2020·Journal of the American College of Cardiology·Javier Barallobre-BarreiroJason C Kovacic
Nov 16, 2020·European Journal of Medical Genetics·Edoardo ErrichielloOrsetta Zuffardi
Jul 19, 2020·Matrix Biology : Journal of the International Society for Matrix Biology·Tao JiaFlorence Ruggiero
May 28, 2021·Journal of the American Heart Association·Peng ChenDao Wen Wang

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