Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome. Issue 3 (12th December 2019)

• Record Type: Journal Article
• Authors: Callaghan, Mary B.; Hadden, Rob; King, Jon S.; Lachlan, Katherine; van Dijk, Fleur S.; Turnpenny, Peter D.
• Is Part Of: American journal of medical genetics. Volume 182:Issue 3(2020)
• Page Start: 553
• Page End: 556
• Publication Date: 2019-12-12
• Subjects: amniotic band sequence -- COL3A1 defects -- vascular Ehlers–Danlos syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61449
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Familial amniotic band sequence (ABS) is rare but has been reported in the offspring of mothers with connective tissue disorders. We present a family of two half‐siblings with ABS who share the same biological father. Following a serious vascular event a de novo pathogenic variant in COL3A1 was detected in the father, confirming a diagnosis of vascular Ehlers–Danlos syndrome (vEDS). The same variant was found in both his ABS‐affected children but not in his unaffected child. The amniotic membrane is derived from fetal tissue, type III collagen being a component. As the affected children are paternal half‐siblings, ABS was less likely due to maternal factors. Rather, the amniotic bands may have resulted from decreased type III collagen production as seen in people with vEDS, causing fragility of the amniotic membrane. Consequently, it is important to consider vEDS in patients with ABS.