COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child.
Diagnostic assessment of osteoarthritis in children and adolescents is difficult. Here, we report the sixth family with a COL2A1 mutation R275C. The index patient, her mother and her three brothers had severe coxarthrosis, in some cases requiring surgery. Only the mother was hard of hearing, and only her children had brachydactyly of the fourth digit. The index patient suffered a femoral neck fracture after minor trauma at a time when osteoarthritis was not yet radiologically detectable. Hip fracture or osteoarthritis of unclear origin in childhood should prompt genetic work-up for the purposes of correct classification and genetic counseling.
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine University, Duesseldorf, Germany. Electronic address: petra.lankisch@med.uni-duesseldorf.de.
Petra
P
Lankisch
BMT laboratory, Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine University, Duesseldorf, Germany.
Andrea
A
Hönscheid
Institute of Diagnostic and Interventional Radiology, Pediatric Radiology, University Hospital Duesseldorf, Duesseldorf, Germany.
Jörg
J
Schaper
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine University, Duesseldorf, Germany.
Arndt
A
Borkhardt
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine University, Duesseldorf, Germany.
Hans-Jürgen
HJ
Laws
D000293:Adolescent; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D005265:Femoral Neck Fractures / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D006801:Humans; D009154:Mutation; D010003:Osteoarthritis / Q000000981:diagnostic imaging / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography
C499177:COL2A1 protein, human; D024043:Collagen Type II
COL2A1 Arg75Cys mutation; COL2A1 mutation; Familial juvenile osteoarthritis; Hip joint pain; Premature osteoarthritis; Type II collagenopathies