biostudies-literatureUnknown188(9)Takeda RMinistry of Health, Labour and WelfareJapan Agency for Medical Research and DevelopmentAbnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers-Danlos syndrome (EDS), and COL1-related overlapping disorder (C1ROD). C1ROD is a recently proposed disorder characterized by predominant EDS symptoms of joint and skin laxity and mild OI symptoms of bone fragility and blue sclera. Patients with C1ROD do not carry specific variants for COL1-related EDS, including classical, vascular, cardiac-valvular, and arthrochalasia types. We describe clinical and molecular findings of 23 Japanese patients with pathogenic or likely pathogenic variants of COL1A1 or COL1A2, who had either OI-like or EDS-like phenotypes. The final diagnoses were OI in 17 patients, classicalAmerican journal of medical genetics. Part A2560-2575https://www.ebi.ac.uk/biostudies/studies/S-EPMC9545637biostudies-literatureClinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.PMC9545637Kanki STakeda RTaketani TYamaguchi TNakamura YHayashi SKosho TYoshimura HSano SKawame HfalseClinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers-Danlos syndrome (EDS), and COL1-related overlapping disorder (C1ROD). C1ROD is a recently proposed disorder characterized by predominant EDS symptoms of joint and skin laxity and mild OI symptoms of bone fragility and blue sclera. Patients with C1ROD do not carry specific variants for COL1-related EDS, including classical, vascular, cardiac-valvular, and arthrochalasia types. We describe clinical and molecular findings of 23 Japanese patients with pathogenic or likely pathogenic variants of COL1A1 or COL1A2, who had either OI-like or EDS-like phenotypes. The final diagnoses were OI in 17 patients, classical2022-01-01T00:00:00Z2022 Sep2026-05-28T04:43:04.511Z2024-11-21T06:46:30.609ZS-EPMC95456373582242610.1002/ajmg.a.62887