Study Identifies New Gene Variants in Patients With Classical Ehlers-Danlos

A small study including 44 Polish patients with classical Ehlers-Danlos identified 9 new mutations of the COL5A1 gene, including 8 missense mutations and 1 splice site. Using in silico tools, the study investigators determined many of these mutations to be pathogenic, with several deleterious. Although the large number of mutations found along the COL5A1 gene in patients with Ehlers-Danlos remains difficult to interpret, identification of these mutations may eventually help better distinguish between the different subtypes of Ehlers-Danlos. Currently, classification of patients is based only on clinical features, with those presenting with joint hypermobility, skin hyperextensibility, and atrophic scars thought to have classical Ehlers-Danlos.

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Reference

Junkiert-Czarnecka A, Pilarska-Deltow M, Bąk A, et al. New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases. Postepy Dermatol Alergol. 2019;36(1):29-33. doi: 10.5114/ada.2018.79440.

Photo Credit: Whitaker JK, et al. Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome. BMC Opthalmology. 2012;12:47. doi: 10.1186/1471-2415-12-47.