Report of second case and clinical and molecular characterization of Eiken syndrome

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  • A. Moirangthem
    Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India
  • D.L. Narayanan
    Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad India
  • P. Jacob
    Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India
  • G. Nishimura
    Center for Intractable Diseases Saitama Medical University Hospital Saitama Japan
  • G. Mortier
    Center of Medical Genetics University of Antwerp and Antwerp University Hospital Antwerp Belgium
  • K.M. Girisha
    Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

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公開日
2018-07-27
権利情報
  • http://onlinelibrary.wiley.com/termsAndConditions#vor
DOI
  • 10.1111/cge.13413
公開者
Wiley

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<jats:p> We report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor <jats:italic>(PTH1R)</jats:italic> c.103G > A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi‐allelic variants in <jats:italic>PTH1R.</jats:italic> Only one affected family has been known to‐date. The hallmarks include delayed ossification of bone including the epiphyses, pubic symphysis, and primary ossification centers of the short tubular bones, coarse bone trabeculae, and modeling abnormalities. The phenotype being described here recapitulates the delayed ossification and modeling abnormalities of Eiken syndrome. In addition, supernumerary epiphyses of the tubular bones of the hands and primary failure of eruption of teeth were observed in our proband. This report characterizes Eiken syndrome and confirms that bi‐allelic hypomorphic variants in <jats:italic>PTH1R</jats:italic> are probably to cause this condition. </jats:p>

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