Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism

Clinical Endocrinology

Volumn 76, Issue 1, 2012, Pages 33-38

  Domingues, Rita ^a,b   Tomaz, Rute Alexandra ^a,b   Martins, Carmo ^a,b   Nunes, Carla ^c   Bugalho, Maria João ^a,b,d   Cavaco, Branca Maria ^a,b  

^a INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^b NOVA MEDICAL SCHOOL   (Portugal)

^c Centro Hospitalar de Torres Vedras   (Portugal)

^d Instituto Portugues de Oncologia de Lisboa Francisco Gentil   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM;

ADULT; ARTICLE; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENOME; HEMIZYGOSITY; HOMOZYGOSITY; HRPT2 GENE; HUMAN; HYPOCALCEMIA; MALE; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; PARATHYROID ADENOMA; POLYMERASE CHAIN REACTION; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; SOMATIC MUTATION;

ADULT; BASE SEQUENCE; DNA; GENE DELETION; GERM-LINE MUTATION; HUMANS; HYPERPARATHYROIDISM; MALE; TUMOR SUPPRESSOR PROTEINS;

EID: 83455163973     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04184.x     Document Type: Article

References (20)

1. Carpten, J.D., Robbins, C.M., Villablanca, A., et al. (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genetics, 32, 676-680. (Pubitemid 35435184)
2. Cavaco, B.M., Barros, L., Pannett, A.A., et al. (2001) The hyperparathyroidism-jaw tumor syndrome in a Portuguese kindred. The Quarterly Journal of Medicine, 94, 213-222. (Pubitemid 32331641)
3. Cavaco, B.M., Guerra, L., Bradley, K.J., et al. (2004) Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. The Journal of Clinical Endocrinology and Metabolism, 89, 1747-1752. (Pubitemid 38507929)
4. Bradley, K.J., Hobbs, M.R., Buley, I.D., et al. (2005) Uterine tumors are a phenotypic manifestation of the hyperparathyroidism-jaw tumor syndrome. Journal of Internal Medicine, 257, 18-26. (Pubitemid 40129123)
5. Newey, P.J., Bowl, M.R., Cranston, T., et al. (2010) Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Human Mutation, 31, 295-307.
6. Yart, A., Gstaiger, M., Wirbelauer, C., et al. (2005) The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. Molecular and Cellular Biology, 25, 5052-5060. (Pubitemid 40781105)
7. Yang, Y.J., Han, J.W., Youn, H.D., et al. (2010) The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression. Nucleic Acids Research, 38, 382-390.
8. Masi, G., Barzon, L., Iacobone, M., et al. (2008) Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocrine-Related Cancer, 15, 1115-1126.
9. Howell, V.M., Haven, C.J., Kahnoski, K., et al. (2003) HRPT2 mutations are associated with malignancy in sporadic parathyroid tumors. Journal of Medical Genetics, 40, 657-663. (Pubitemid 37100697)
10. Shattuck, T.M., Välimäki, S., Obara, T., et al. (2003) Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. The New England Journal of Medicine, 349, 1722-1729. (Pubitemid 37315009)
11. Cetani, F., Pardi, E., Borsari, S., et al. (2004) Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. The Journal of Clinical Endocrinology and Metabolism, 89, 5583-5591. (Pubitemid 39518444)
12. Cavaco, B.M., Santos, R., Félix, A., et al. (2011) Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses. Endocrine Pathology, 22, 44-52.
13. Grimelius, L., DeLellis, R.A., Bondeson, L., et al. (2004) Parathyroid adenoma. In:, R.A. DeLellis, R.V. Lloyd, P.U. Heitz, C. Eng, eds. World Health Organization Classification of Tumours. Pathology and Genetics of Tumors of Endocrine Organs. IARC Press, Lyon, 128-132.
14. Canzian, F., Salovaara, R., Hemminki, A., et al. (1996) Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Research, 56, 3331-3337. (Pubitemid 26242985)
15. Livak, K.J., &, Schmittgen, T.D., (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods, 25, 402-408. (Pubitemid 34164012)
16. Roque, L., Rodrigues, R., Pinto, A., et al. (2003) Chromosome imbalances in thyroid follicular neoplasms: a comparison between follicular adenomas and carcinomas. Genes, Chromosomes and Cancer, 36, 292-302. (Pubitemid 36158202)
17. Kirchhoff, M., Gerdes, T., Rose, H., et al. (1998) Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry, 31, 163-173. (Pubitemid 28113896)
18. Volikos, E., Robinson, J., Aittomäki, K., et al. (2006) LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. Journal of Medical Genetics, 43, e18.
19. Huang, J.S., Huang, C.J., Chen, S.K., et al. (2007) Associations between VHL genotype and clinical phenotype in familial von Hippel-Lindau disease. European Journal of Clinical Investigation, 37, 492-500. (Pubitemid 46817343)
20. Marx, S.J., (2011) Hyperparathyroid genes: sequences reveal answers and questions. Endocrine Practice, 31, 1-32.