Osteogenesis imperfecta


What gene changes cause osteogenesis imperfecta?

Osteogenesis imperfecta (OI) is caused by gene changes in one of at least several different genes. People have about 20,000-25,000 genes in their bodies. Our genes contain our body's genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly or be overproduced.

Most people, around 90%, have a change in the COL1A1 or COL1A2 genes. Other genes that can cause different types of OI include the CRTAP, IFITM5, LEPRE1, PPIB, P3H1, SERPINH1, SERPINH1, SP7/OSX, and WNT1 genes.

To find a medical professional nearby who can discuss information about gene changes in OI, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/osteogenesis-imperfecta/causes/27301 • DATE UPDATED: 2017-04-17


Osteogenesis Imperfecta. The Genetics Home Reference website. Accessed April 6, 2017. https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta

Osteogenesis Imperfecta. The National Organization for Rare Disorders website. Accessed April 6, 2017. https://rarediseases.org/rare-diseases/osteogenesis-imperfecta/

Steiner RD, Adsit J, Basel D. COL1A1/2-Related Osteogenesis Imperfecta. GeneReviews website. Accessed April 6, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1295/

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