MPI für molekulare Genetik / Department of Human Molecular Genetics |
|Czech dysplasia: report of a large family and further delineation of the phenotype|
|Authors:||Tzschach, Andreas; Tinschert, Sigrid; Kaminsky, Elke; Lusga, Eugen; Mundlos, Stefan; Graul-Neumann, Luitgard M.|
|Research Context:||Clinical Report|
|Date of Publication (YYYY-MM-DD):||2008-06-13|
|Title of Journal:||American Journal of Medical Genetics Part A|
|Journal Abbrev.:||Am J Med Genet A|
|Issue / Number:||14|
|Copyright:||© 2008 Wiley-Liss, Inc., A Wiley Company|
|Review Status:||not specified|
|Abstract / Description:||Czech dysplasia (OMIM 609162) is a recently delineated COL2A1 disorder characterized by early-onset progressive pseudorheumatoid arthritis, platyspondyly, short third and fourth metatarsals, normal height, and the absence of ophthalmological problems or cleft palate. Czech dysplasia is caused by a specific missense mutation (R275C, c.823C > T) in the triple helical domain of the COL2A1 gene. We report on a large family with 11 patients with typical Czech dysplasia and sensorineural hearing loss. Hearing loss has hitherto not been considered as a major manifestation of Czech dysplasia. Mutation analysis documented the COL2A1 c.823C > T (R275C) mutation in all affected individuals. Thus, Czech dysplasia is possibly caused exclusively by the R275C mutation, which is a unique situation among the COL2A1 disorders. The family provides further evidence for the remarkably uniform manifestation of the clinical and radiological abnormalities and adds hearing loss to the list of major anomalies of Czech dysplasia.|
|Free Keywords:||COL2A1 • Czech dysplasia • deafness • sensorineural hearing loss • arthritis • spondyloepiphyseal osteoarthritis|
|Comment of the Author/Creator:||email: Andreas Tzschach (firstname.lastname@example.org)
Correspondence to: Andreas Tzschach, Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, 14195 Berlin, Germany.
|External Publication Status:||published|
|Communicated by:||Hans-Hilger Ropers|
|Affiliations:||MPI für molekulare Genetik|
|External Affiliations:||1.Institute of Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany;
2.Institute of Clinical Genetics, Technical University, Dresden, Germany;
3.Practice of Human Genetics, Hamburg, Germany;
4.Institute of Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
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