Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1

Ehlers-Danlos syndromeclassical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndromeclassical type. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons2-11 and duplications of exons12-67 within COL5A1. Array comparative genomic hybridizationconfirmed a 94 kb deletion at 9q34.3 involving exons2-11 of COL5A1, and a 3.4 Mb duplication at 9q34.3 involving exons12-67 of COL5A1.