COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
Yuri A Zarate1, Rachel Clingenpeel2, Elizabeth A Sellars1
1Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Insights
Routine genetic testing for Osteogenesis Imperfecta (OI) in suspected child abuse cases with no other clinical indicators has a low yield. Careful clinical evaluation is key to identifying children needing OI molecular testing.
Area of Science:
- Pediatrics
- Genetics
- Forensic Medicine
Background:
- Child abuse is a significant cause of pediatric fractures.
- Osteogenesis Imperfecta (OI) is a common inherited condition leading to bone fragility and fractures.
Purpose of the Study:
- To evaluate the diagnostic yield of molecular testing for Osteogenesis Imperfecta (OI) in children evaluated for abuse.
- To determine the prevalence of OI in a cohort of children suspected of abuse.
Main Methods:
- Retrospective analysis of clinical, laboratory, and radiographic data.
- Molecular testing for COL1A1 and COL1A2 genes in 43 pediatric patients.
- Case review to establish final diagnosis.
Main Results:
- Pathogenic variants for mild OI were identified in 2 of 43 patients (5%), both with prior clinical suspicion.
- No pathogenic variants were found in 35 patients where OI testing was ordered due to higher suspicion of maltreatment.
- Child abuse was the final diagnosis in 34 cases (77%); no inherited metabolic bone disorders were identified.
Conclusions:
- Routine OI genetic testing in child abuse evaluations without suggestive clinical findings has a low diagnostic yield.
- Clinical assessment and medical history are crucial for identifying patients who may benefit from OI molecular testing.
- This study underscores the importance of targeted genetic testing based on clinical presentation.
Abstract:
Child abuse is a major public health concern that can explain a proportion of fractures in children. Osteogenesis imperfecta (OI) is the most common inherited syndrome that predisposes to skeletal fractures. We conducted a retrospective analysis of data from clinical, laboratory, and radiographic information from children evaluated for child abuse in which molecular testing for COL1A1 and COL1A2 genes was conducted. A total of 43 patients underwent molecular testing for OI. Pathogenic variants predicted to result in a mild form of OI were found in two patients (5%), both clinically suspected to have this diagnosis. None of the cases in whom OI molecular testing was ordered when maltreatment concerns were thought to be more likely (0/35) were identified to have pathogenic variants. After reviewing each individual case, the final diagnosis was child abuse for 34 cases (77%), and additional radiographic and laboratory studies did not identify any with inherited metabolic predisposition to fracture or rickets. We conclude that routine testing for OI in the setting of child abuse when no other suggestive clinical findings are present has a low yield. A careful review of the medical history and a detailed clinical evaluation help identify those at risk for genetic alterations. © 2016 Wiley Periodicals, Inc.
