What gene change causes Bethlem myopathy?
Bethlem myopathy is caused by a gene change in one of three genes: COL6A1, COL6A2, and COL6A3. These genes code for the protein that makes up collagen VI. Collagen is like the glue that holds the parts of our body together. Most people with Bethlem myopathy will have one gene change that is sufficient to cause disease while other people will have two gene changes that lead to disease. For people who only have one disease causing gene change, they may have inherited the genetic variant from one of their parents who also has symptoms, or the gene change may be a new genetic change in that individual. For people who have two disease causing gene changes, they must have a gene change on the copy of the gene inherited from their copy and a gene change on the copy of the gene inherited from their father. In this situation, the parents are not expected to have symptoms.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/bethlem-myopathy-109941/causes/67025 • DATE UPDATED: 2019-02-21
Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 158810: October 4, 2018: https://omim.org/entry/158810 Accessed 21FEB19
Lampe AK, Flanigan KM, Bushby KM, et al. Collagen Type VI-Related Disorders. 2004 Jun 25 [Updated 2012 Aug 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1503/
Genetics home reference, Collagen VI-related myopathy, https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy Accessed 21FEB19