COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child - 12/02/14

Doi : 10.1016/j.jbspin.2013.06.007

Petra Lankisch ^a,^⁎,^{^{1
The corresponding author certifies that all authors approved the entirety of the submitted material and contributed actively to the study.}} , Andrea Hönscheid ^b, Jörg Schaper ^c, Arndt Borkhardt ^a, Hans-Jürgen Laws ^a
^a Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine University, Duesseldorf, Germany
^b BMT laboratory, Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine University, Duesseldorf, Germany
^c Institute of Diagnostic and Interventional Radiology, Pediatric Radiology, University Hospital Duesseldorf, Duesseldorf, Germany

^⁎Corresponding author. Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine University, Universitätsstrasse 1, 40225 Düsseldorf, Germany. Tel.: +21 1 81 18 297; fax: +21 1 81 16 539.

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Abstract

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.

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Keywords : Hip joint pain, Familial juvenile osteoarthritis, Premature osteoarthritis, Type II collagenopathies, COL2A1 mutation, COL2A1 Arg75Cys mutation

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Molecular analysis of COL2A1 gene

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Vol 81 - N° 1

P. 83-85 - janvier 2014 Retour au numéro

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COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child - 12/02/14

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