Abstract
Interstitial deletions of 2q32 are typically identified after investigation for developmental delay. Two genes associated with Ehlers Danlos Syndrome (EDS); COL3A1 and COL5A2 associated with vascular EDS and classical EDS respectively, may be incorporated in the region. Although many reports of 2q32 microdeletion patients exist, there is little mention of these genes with only a few reports highlighting features potentially linked with EDS. This paper reviews the literature and presents eleven new patients with 2q32 deletions that encompass COL3A1 and COL5A2. We describe their clinical manifestations with a particular focus on the EDS phenotype. Most patients showed some minor features of vascular EDS and one patient had vessel rupture at a young age. Analysis of skin biopsy findings from two patients showed features consistent with vascular EDS but no features of classical EDS. The findings from this cohort provide additional evidence that haploinsufficiency is an important disease mechanism in COL3A1 but not COL5A2. We highlight the importance of pre-test counselling for incidental findings from broad genetic testing and appropriate post-test counselling to ensure follow up is provided to manage the implications of a vascular EDS diagnosis.