HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome

@article{Carpten2002HRPT2EP,
  title={HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome},
  author={John D. Carpten and Christiane M. Robbins and Andrea C. Villablanca and Lars Georg Forsberg and Silvano Presciuttini and Joan E. Bailey-Wilson and William F. Simonds and Elizabeth Gillanders and Ann M. Kennedy and John D. Chen and Sunita Agarwal and Raman Sood and Minh P. Jones and Tracy Y. Moses and Carola J Haven and David Petillo and Poloko D Leotlela and Brian Harding and Don Cameron and Anna A J Pannett and Anders H{\"o}{\"o}g and Helen Heath and Laura A James-Newton and Bethany S. Robinson and Richard J. Zarbo and Branca M Cavaco and W. Wassif and Nancy D Perrier and Irving B. Rosen and Ulf Kristoffersson and Peter Turnpenny and L.-O. Farnebo and G. Michael Besser and Charles E. Jackson and Hans Morreau and Jeffrey M. Trent and Rajesh V Thakker and Stephen J. Marx and Bin Tean Teh and Catharina Larsson and Maurine R. Hobbs},
  journal={Nature Genetics},
  year={2002},
  volume={32},
  pages={676-680}
}
We report here the identification of a gene associated with the hyperparathyroidism–jaw tumor (HPT–JT) syndrome. A single locus associated with HPT–JT (HRPT2) was previously mapped to chromosomal region 1q25–q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT–JT. The proposed role of… CONTINUE READING
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