Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Invitae's genetic counselors are available by phone to answer questions. Caffey disease A particular mutation in the COL1A1 gene causes infantile cortical hyperostosis, commonly known as Caffey disease. Gene ID: 1277. https://www.ncbi.nlm.nih.gov/gene/1277. Semin Med Genet. Virtually … details regarding regions or types of variants that are covered or excluded for this test. Type I collagen is composed of two pro-α1(I) chains and one pro-α2(I) chain (which is produced from the COL1A2 gene). 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, and your order will represent two billable events. the analysis covers the select non-coding variants specifically defined in the table below. Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. A The gene-edited line had a normal karyotype, expressed pluripotency markers and … J Clin Invest. In addition, affected individuals can have a blue or grey tint to the part of the eye that is usually white (the sclera), short stature, hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. The absence of this segment interferes with the assembly and processing of pro-α1(I) chains into mature type I collagen molecules. Additionally, the COL1A1 gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906). Invitae’s deletion/duplication analysis determines copy number at a single exon rare types. Active PDGFB protein signals for cell growth and division (proliferation) and maturation (differentiation). Dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22. COL1A1 gene mutations are also a very rare cause of the classical and vascular types of Ehlers-Danlos syndrome. The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662), and Caffey disease (PMID: 24389367). Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Accessed May 2017). Your final cost may Typically, affected individuals with EDS have pathogenic variants in COL5A1 and COL5A2, although COL1A1 and COL1A2 pathogenic variants have also been identified in this patient population (PMID: 15580559). CH, Dumanski JP, Ostman A. All rights reserved. Genetic control of susceptibility to osteoporosis. Type I collagen is the most abundant form of collagen, which strengthens and supports bones, cartilige, tendons, teeth, skin and the sclera of the eye (PMID: 23692737). Bone. https://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta. 10.1002/ajmg.c.31550. 2014; 60:246-51. https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta, https://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta, https://ghr.nlm.nih.gov/condition/caffey-disease. The collagen molecules then arrange themselves into long, thin fibrils that form stable interactions (cross-links) with one another in the spaces between cells. Caffey disease: new perspectives on old questions. Caffey disease. May;115(5):1250-7. Gene ID: 1278. https://www.ncbi.nlm.nih.gov/gene/1278. COL1A1 (ENSG00000108821) is associated with bone disease (EFO_0004260) through evidence in the Open Targets Platform from GWAS, clinical trials, differential expression experiments, pathways, text mining and experiments in animal models. If you choose to add this test, you will need to send in two sample tubes This translocation, written as t(17;22), fuses part of the COL1A1 gene on chromosome 17 with part of a gene on chromosome 22 called PDGFB. Most cases of OI type I (OMIM 166200) are caused by pathogenic variants in COL1A1. To add genes that are eligible for re-requisition, select from the Test Catalog or previously saved Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien The amount shown above is an estimate of your out-of-pocket cost based upon the When this abnormal collagen is incorporated into developing bones and other connective tissues, it causes the serious health problems associated with severe forms of osteogenesis imperfecta. https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta. Epub 2014 Apr 8. Review. COL1A1 gene. The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. At least five mutations in the COL1A1 gene can result in the arthrochalasia type of Ehlers-Danlos syndrome, which is characterized by an unusually large range of joint movement (hypermobility) and dislocations of both hips at birth. With fewer pro-α1(I) chains available, cells can make only half the normal amount of type I collagen. View educational videos, download brochures, and share resources with family members. COL1A1 and COL1A2 show autosomal dominant inheritance. Headquarters | 458 Brannan Street, San Francisco, CA 94107, Laboratory & Shipping | 475 Brannan Street, Suite 230, San Francisco, CA 94107 | www.invitae.com, In the US | clientservices@invitae.com | p: 800-436-3037 | f: 415-276-4164, Outside the US | globalsupport@invitae.com or visit www.invitae.com/contact. Please review the Alternate Tests section for additional options to consider. MedGen UID: 45246. P3H1 gene. Accessed May 2017). Gene: COL1A1 Green List (high evidence) COL1A1 (collagen type I alpha 1 chain) EnsemblGeneIds (GRCh38): ENSG00000108821 ... High level of confidence as disease-causing gene. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78. Deregulation of the Dentinogenesis Imperfecta. for these may be marginally reduced. Polymorphisms in the 5′ flank of COL1A1 gene and osteoporosis: meta-analysis of published studies H. Jin , E. Evangelou , J. P. A. Ioannidis , and S. H. Ralston H. Jin, Rheumatic Disease Unit, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh EH4 2XU, UK; 2013; 8:78. Your test results will be delivered as two reports. 1997 For a list of OI treatment centers, please see the OI Clinic Directory. The triple-stranded procollagen molecules are processed by enzymes in a series of steps inside and outside the cell to create mature collagen. phasing, or mapping ambiguity.

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