Home > A. Molecular pathology > COL1A1

COL1A1

Friday 21 May 2004

COL1A1 (MIM.120150) is also called collagen of skin, tendon and bone COL1A1 (MIM.120150).

Pathology

- germline COL1A1 mutations in

  • osteogenesis imperfecta type 1 (OI1)
  • osteogenesis imperfecta type 2 (OI2s)
    • osteogenesis imperfecta type 2A (OI2A)
    • osteogenesis imperfecta type 2C (OI2C)
    • osteogenesis imperfecta type 2 thin-bone subtype
  • osteogenesis imperfecta type 3 (OI3)
  • osteogenesis imperfecta type 4 (O4)
  • bined osteogenesis imperfecta (MIM.166200) and Ehlers-Danlos syndrome (MIM.130000) phenotype
  • Caffey disease (infantile cortical hyperostosis) (MIM.114000)
  • Ehlers-danlos syndromes (EDSs) (MIM.130000)
    • Ehlers-danlos syndrome type 1 (EDS1) (MIM.130000)
    • Ehlers-danlos syndrome type 7A (EDS7A) (MIM.130060)

- variants and polymorphisms

  • susceptibility to osteoporosis
  • suceptibility ot dissection of cervical arteries

- involved in tumoral translocations with gene fusion

  • COL1A1/PDGFB fusion gene in dermatofibrosarcoma protuberans (DFSP) (MIM.607907)
  • COL1A1/PDGFB fusion gene in giant cell fibroblastoma

See also

- collagen (COLs)

  • COL1s
  • COL2s (and COL2A1)

References

- Kamoun-Goldrat A, Martinovic J, Saada J, Sonigo-Cohen P, Razavi F, Munnich A, Le Merrer M. Prenatal cortical hyperostosis with COL1A1 gene mutation. Am J Med Genet A. 2008 Jun 13. PMID: #18553566#