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  Czech dysplasia: report of a large family and further delineation of the phenotype

Tzschach, A., Tinschert, S., Kaminsky, E., Lusga, E., Mundlos, S., & Graul-Neumann, L. M. (2008). Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A, 146A(14), 1859-1864. doi:10.1002/ajmg.a.32389.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7FB3-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7FB4-F
Genre: Journal Article
Alternative Title : Am J Med Genet A

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 Creators:
Tzschach, Andreas1, Author              
Tinschert, Sigrid2, Author              
Kaminsky, Elke, Author
Lusga, Eugen, Author
Mundlos, Stefan2, Author              
Graul-Neumann, Luitgard M., Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: COL2A1 • Czech dysplasia • deafness • sensorineural hearing loss • arthritis • spondyloepiphyseal osteoarthritis
 Abstract: 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.

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Language(s): eng - English
 Dates: 2008-06-13
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A
Source Genre: Journal
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Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 146A (14) Sequence Number: - Start / End Page: 1859 - 1864 Identifier: -