Cloning and Mutational Analysis of the Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT) Gene
Description of Invention:
Hyperparathyroidism is a key feature of some hereditary endocrine neoplasias and the autosomal dominant disorder HPT-JT, all of which are characterized by the presence of tumors in endocrine tissues. The current invention identifies a series of mutations in chromosome 1 open reading frame 28 (C10RF28)--the HPT-JT gene. Linkage analysis and physical mapping studies of clinical samples from multiple families with HPT-JT syndrome were used to identify these mutations. These genomic changes are predicted to result in truncated gene products.
This new technology might be useful for: 1) diagnosis of HPT-JT and/or a predisposition to HPT-JT; 2) development of a treatment for HPT-JT; and 3) determination of the effectiveness of various potential HPT-JT therapies.
Inventors:
John D. Carpten et al. (NHGRI)
Patent Status:
DHHS Reference No. E-004-02/0 filed 13 May 2002 (U.S. Provisional Application No. 60/378,022)
DHHS Reference No. E-004-2002/0-PCT-02 filed 13 May 2003, which published as WO 03/094860 on 20 Nov 2003 (PCT Application No. PCT/US03/15081)
Relevant Publication:
J.D. Carpten et al., “HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome,” Nat. Genet. (2002 Dec) 32(4):676-80, Epub 2002 Nov 18.
J.D. Chen et al., “Hyperparathyroidism-jaw tumour syndrome,” J. Int. Med. (2003 Jun) 253(6):634-642, doi: 10.1046/j.1365-2796.2003.01168.x .
T.M. Shattuck et al., “Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma,” N. Engl. J. Med. (2003 Oct) 349(18):1722-1729.
W.F. Simonds et al., “Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome,” J. Clin. Endocrinol. Metab. (2004 Jan) 89(1):96-102, doi: 10.1210/jc.2003-030675.
A. Villablanaca et al., “Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP),” J. Med. Genet. (2004 Mar) 41(3):e32, doi: 10.1136/jmg.2003.012369.
Portfolios:
Cancer
Cancer -Diagnostics-In Vitro-DNA Based
Cancer -Therapeutics-Gene Therapy-Genes
Cancer -Diagnostics
Cancer -Therapeutics
For Additional Information Please Contact:
Brenda Hefti Ph.D.
Office of Technology Transfer
6011 Executive Blvd, Suite 325
Rockville, MD 20852-3804
Phone: (301) 435-4632
Email: heftib@mail.nih.gov
Fax: (301) 402-0220
Web Ref: 623
Updated: 5/04
