ORIGINAL ARTICLE JJBMR A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis 1 1,2 3 4 1 1 Tim Rolvien, Till Koehne, Uwe Kornak, Wolfgang Lehmann, Michael Amling, Thorsten Schinke, and Ralf Oheim Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany Institute of Medical Genetics and Human Genetics, Charit e Universit€atsmedizin Berlin, Berlin, Germany Department of Trauma, Hand and Reconstructive Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany ABSTRACT Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome that involves an osteopetrosis-like sclerosis of the long bones and ﬁbrous dysplasia–like cemento-osseous lesions of the jawbone. Although the genetic analysis of the respective patients has revealed mutations in the ANO5 gene as an underlying cause, there is still no established consensus regarding the bone status of GDD patients. We report a new case of GDD in a 13-year-old boy with recurrent diaphyseal fractures of the femur, in whom we identiﬁed a novel de novo missense mutation in the ANO5 gene, causing a p.Ser500Phe substitution at the protein level. After conﬁrming the presence of GDD-characteristic abnormalities within the jaw bones, we focused on a full osteologic assessment using
Journal of Bone and Mineral Research – Wiley
Published: Feb 1, 2017
Keywords: ; ; ; ; ;
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