Osteogenesis imperfecta type VI

Is genetic testing available for osteogenesis imperfecta?

Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease- causing gene, and specific mutation in the affected individual are known.

Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative.

GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on "Testing" next to the type of OI in which you are interested. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members.

Last updated on 05-01-20

How is osteogenesis imperfecta type 6 inherited?

Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier. The children of an individual with an autosomal recessive type of OI are always carriers for a disease-causing mutation.

Last updated on 05-01-20

What is osteogenesis imperfecta type 6?

Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 __ gene and is inherited in an autosomal recessive pattern.

Last updated on 05-01-20

Name: Osteogenesis Imperfecta Foundation 804 West Diamond Avenue, Suite 210
Gaithersburg, MD, 20878, United States
Phone: 301-947-0083 Toll Free: 844-889-7579 Fax : 301-947-0456 Email: bonelink@oif.org Url: http://www.oif.org
Name: Children's Brittle Bone Foundation 7701 95th Street
Pleasant Prairie, WI, 53158 , United States
Phone: 773-236-2223 Fax : 262-947-0724 Email: info@cbbf.org Url: http://www.cbbf.org/
Name: Canadian Osteogenesis Imperfecta Society COIS PO Box 38189 Castlewood 550 Eglington Ave West
Toronto Ontario, Canada M5N 1B0
Canada
Phone: 844-889-7579 Email: COIS-SCOI@oif.org Url: https://oif.org/cois/
Name: The Brittle Bone Society 30 Guthrie Street Dundee
DD1 5BS
United Kingdom
Phone: (+44) 01382- 204446 Fax : (+44) 01382- 206771 Email: bbs@brittlebone.org Url: http://www.brittlebone.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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