Send to

Choose Destination
Intractable Rare Dis Res. 2019 May;8(2):98-107. doi: 10.5582/irdr.2019.01064.

Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.

Lu Y1,2, Zhang S1,2, Wang Y3, Ren X4, Han J1,2.

Author information

Key Laboratory for Biotech-Drugs of National Health Commission, Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, China.
School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Ji'nan, China.
Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji'nan, China.
Department of Orthopaedic Surgery, The People's Hospital of Wuqing District, Tianjin, China.


Type I collagen is an important structural protein of bone, skin, tendon, ligament and other connective tissues. It is initially synthesized as a precursor form, procollagen, consisting of two identical pro-α1(I) and one proα2(I) chains, encoded by COL1A1 and COL1A2, respectively. The N- and C- terminal propeptides of procollagen are cleavage by N-proteinase and C-proteinase correspondingly, to form the central triple helix structure with Gly-X-Y repeat units. Mutations of COL1A1 and COL1A2 genes are associated with osteogenesis imperfecta, some types of Ehlers-Danlos syndrome, Caffey diseases, and osteogenesis imperfect/Ehlers- Danlos syndrome overlapping diseases. Clinical symptoms caused by different variations can be variable or similar, mild to lethal, and vice versa. We reviewed the relationship between clinical manifestations and type I collagen - related rare genetic disorders and their possible molecular mechanisms for different mutations and disorders.


Caffey disease; Ehlers-Danlos syndrome; N- and C- propeptide; Type I collagen; biosynthesis; mutation; osteogenesis imperfecta

Supplemental Content

Full text links

Icon for IRCA-BSSA Group Icon for PubMed Central
Loading ...
Support Center