Table 1 Summary of clinical, genetic, and biochemical studies
Family member | COL3A1 genotype | Dermal fibroblasts | Clinical major features | Clinical minor features | Additional clinical features |
|---|---|---|---|---|---|
III-1 | No variant found | Not done | None | None | |
III-2 Proband | c.1786C>T, p.(Arg596*) and c.3851G>A, p.(Gly1284Glu) | Not done, sample not available | Arterial dissections, fatal at age 15. Thin, translucent skin. Characteristic facial appearance | Talipes equinovarus | Hydrocele of testis. Long, slender fingers |
III-3 | c.1786C>T, p.(Arg596*) and c.3851G>A, p.(Gly1284Glu) | Abnormal type III collagen, reduced amount | Arterial dissections. Characteristic facial appearance. Thin, translucent skin. Easy bruising | First-degree relative with vascular EDS. Small joint hypermobility. Tendon rupture | Cerebrocortical anomalies. Long, slender fingers |
II-3 | c.1786C>T p.(Arg596*) | Not done | None | Early-onset varicose veins | |
II-4 | c.1786C>T p.(Arg596*) | Not done | None | None | Umbilical and inguinal hernia |
II-5 | c.1786C>T p.(Arg596*) | Reduced amount type III collagen | None | First-degree relative with vascular EDS | |
II-6 | c.3851G>A p.(Gly1284Glu) | Abnormal type III collagen | Thin, translucent skin | First-degree relative with vascular EDS. Small joint hypermobility | Bilateral pulmonary emphysema. Reduced ascending aorta elastisity |
II-7 | No variant found | Not done | None | None | |
I-2 | c.1786C>T p.(Arg596*) | Not done | None | None | |
I-3 | Not available | Not done, sample not available | Cerebral hemorrhage, fatal at age 43 | Not examined |
