• Dermatol. Online J. · Jul 2018

    Retracted Publication

    Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events.

    • Francesca Cortini, Barbara Marinelli, Manuela Seia, Agostino Seresini, and Alessandra Bassotti.
    • Department of Clinical Sciences and Community Health, University of Milan, IRCCS Ca' Granda Foundation Via San Barnaba. francesca.cortini@guest.unimi.it.
    • Dermatol. Online J. 2018 Jul 15; 24 (7).

    AbstractClassic Ehlers-Danlos syndrome (cEDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, underlie this type of EDS. In this article we report a genetic and clinical analysis of an Italian family that carried missense mutation c.934 C>T (p.R312C) in the COL1A1 gene. Literature review showed an association between this missense mutation and vascular complications. Genetic screening conducted on Italian family members, revealed that vascular events are absent. In conclusion, genetic and clinical data confirm the extreme heterogeneity of EDS. Nevertheless, vascular events could be a risk factor and periodical clinical evaluation could be relevant.

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