COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- intra-familial variability several signs both diseases. Recently, after the observation that some individuals first ascertained by a suspicion EDS resulted then carriers pathogenic variants genes known primarily cause OI, authors proposed term “COL1-related disorder” describe these cases. In this paper, we report clinical, molecular, biochemical information about individual with diagnosis severe joint hypermobility who carries heterozygous variant COL1A2 gene, benign COL1A1 gene. The variant, commonly ascribed as well has been inherited from individual's mother, presented only mild OI was confirmed molecular testing. addition, reviewed literature similar cases overlapping syndromes caused COL1 gene mutations. reported case review suggest COL1-related (OI, syndromes) represent continuum phenotypes collagen spectrum pathophysiology underlying mechanisms support adoption updated syndromes.