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Am J Med Genet A. 2010 Aug;152A(8):2090-3. doi: 10.1002/ajmg.a.33541.

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

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Institute of Human Genetics, University of Cologne, Cologne, Germany.


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.

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