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. 2020 Feb;97(2):357-361.
doi: 10.1111/cge.13643. Epub 2019 Oct 1.

Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant

Salma Adham  1   2 , Sophie Dupuis-Girod  3   4 , Etienne Charpentier  2   5 , Jean-Michaël Mazzella  1 , Xavier Jeunemaitre  1   2   6 , Anne Legrand  1   2   6
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Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant

Salma Adham et al. Clin Genet. 2020 Feb.

Abstract

Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of connective tissue disorders. Overlapping features including arterial aneurysms/dissections in both classical and vascular EDS are a major challenge in the clinical diagnosis of these subtypes. The COL1A1 p.(Arg312Cys) variant leads to a phenotype of classical EDS with a propensity to arterial complications. Our report describes a two-generation family with one individual presenting with a dissection of the right external iliac artery. The primary suspicion of vascular EDS with the unsatisfactory identification of a COL3A1 benign variant was secondarily readjusted with the identification of COL1A1 p.(Arg312Cys) variant. This raises the question of the association of COL1A1 p.(Arg312Cys) with arterial complications and the need for a gene panel including not only the usual genes tested in search of classical or vascular EDS but also COL1A1.

Keywords: COL1A1; classical Ehlers-Danlos syndrome; p.(Arg312Cys); vascular involvement.

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References

REFERENCES

    1. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26.
    1. Ritelli M, Dordoni C, Venturini M, et al. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013;8:58.
    1. Symoens S, Syx D, Malfait F, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012;33(10):1485-1493.
    1. Atzinger CL, Meyer RA, Khoury PR, Gao Z, Tinkle BT. Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. J Pediatr. 2011;158(5):826-830.e821.
    1. Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A. 2010;152A(8):2090-2093.

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