title: COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
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.
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
authors.forename: Yuri A
authors.initials: YA
authors.lastname: Zarate
authors.affiliation: Center for Children at Risk, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
authors.forename: Rachel
authors.initials: R
authors.lastname: Clingenpeel
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Sellars
authors.affiliation: Biostatistics Program, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
authors.forename: Xinyu
authors.initials: X
authors.lastname: Tang
authors.affiliation: Molecular Genetic Pathology, Arkansas Children's Hospital, Little Rock, Arkansas.
authors.forename: Julie A
authors.initials: JA
authors.lastname: Kaylor
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
authors.forename: Katherine
authors.initials: K
authors.lastname: Bosanko
authors.affiliation: Department of Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
authors.forename: Leann E
authors.initials: LE
authors.lastname: Linam
authors.affiliation: Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Washington.
authors.forename: Peter H
authors.initials: PH
authors.lastname: Byers
mesh_terms: D002648:Child; D002649:Child Abuse / Q000175:diagnosis*; D002675:Child, Preschool; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D050723:Fractures, Bone / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D057089:Pathology, Molecular; D010641:Phenotype; D012189:Retrospective Studies
chemical_list: C000601279:COL1A2 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain
keywords: COL1A1; COL1A2; osteogenesis imperfecta; physical abuse