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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

1
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.
2
School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Ji'nan, China.
3
Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji'nan, China.
4
Department of Orthopaedic Surgery, The People's Hospital of Wuqing District, Tianjin, China.

Abstract

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.

KEYWORDS:

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

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