COL1A1

Definition: 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

 COL1A1 Copy Number Gain in the Absence of t(17;22) in Dermatofibrosarcoma Protuberans-Like Tumor 2016 doi : 10.1097/DAD.0000000000000746

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