COL1A1
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)
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