Dr. Peter Byers, Director of the UW Medicine Center for Precision Diagnostics, will be presenting at the upcoming ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.
Topic: What Every Clinical Geneticist Should Know About Testing for Osteogenesis Imperfecta in Suspected Child Abuse Cases
Date: Friday, March 24, 2017
Time: 1:40 PM – 2:00 PM
Location: Phoenix Convention Center
Room: North Ballroom BC
For more information, please visit the conference page HERE
Each year in the UW some 25,000 children between the ages of birth and 3years are abused in ways that result in fractures. In that same age group are about 1200 infants and children with osteogenesis imperfecta (OI) and a smaller number with other genetic predispositions to bone fragility and fracture. The presentation of fracture in children with OI may mimic that of children who have been abused in that multiple unexplained fractures can be present and baffle both the parents and the clinicians as to their origin. More than 90% of individuals with OI have mutations in the type I collagen genes (COL1A1 and COL1A2) and all but a handful of the rest have mutations in any of an additional 15 genes. Mutations in all these genes can now be reliably identified by genetic sequence analysis, which has completely supplanted analysis of proteins produced by cultured fibroblasts for diagnosis. The decision of which children to study in the context of concerns about abuse is difficult and even the most stringent procedures to screen out children with OI still leaves questions in a small number among whom about 5% have genetic and biochemical evidence of OI upon testing. In that context the failure to find a causative genetic alteration, .however, dramatically lowers the likelihood that a child has OI and facilitates further assessment of the family.