Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours

Clinical Endocrinology

Volumn 64, Issue 3, 2006, Pages 299-306

  Bradley, K J ^a   Cavaco, B M ^a,b   Bowl, M R ^a   Harding, B ^a   Cranston, T ^c   Fratter, C ^c   Besser, G M ^d   Da Conceicao Pereira M ^b   Davie, M W J ^e   Dudley, N ^f   Leite, V ^g   Sadler, G P ^f   Seller, A ^c   Thakker, R V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

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

^c CHURCHILL HOSPITAL   (United Kingdom)

^d ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^e ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^f JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^g NOVA MEDICAL SCHOOL   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PARAFIBROMIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CANCER MODEL; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; EXON; FAMILIAL CANCER; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARATHYROID TUMOR; POLYMERASE CHAIN REACTION; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SOMATIC MUTATION;

ADULT; CHILD; DNA, NEOPLASM; FAMILY HEALTH; FEMALE; GENE FREQUENCY; HUMANS; HYPERPARATHYROIDISM; JAW NEOPLASMS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MUTATION; PARATHYROID NEOPLASMS; PEDIGREE; POLYMORPHISM, GENETIC; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 33644943454     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2006.02460.x     Document Type: Article

References (32)

1. Jackson C.E. Norum R.A. Boyd S.B. Talpos G.B. Wilson S.D. Taggart R.T. Mallette L.E. 1990 Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome Surgery 108 1006 1012
2. Szabo J. Heath B. Hill V.M. Jackson C.E. Zarbo R.J. Mallette L.E. Chew S.L. Besser G.M. Thakker R.V. Huff V. Leppert M.F. Heath H. 1995 Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. American Journal of Human Genetics 56 944 950
3. Teh B.T. Farnebo F. Kristoffersson U. Sundelin B. Cardinal J. Axelson R. Yap A. Epstein M. Heath H. III Cameron D. Larsson C. 1996 Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas Journal of Clinical Endocrinology and Metabolism 81 4204 4211
4. Teh B.T. Farnebo F. Twigg S. Hoog A. Kytola S. Korpi-Hyovalti E. Wong F.K. Nordenstrom J. Grimelius L. Sandelin K. Robinson B. Farnebo L.O. Larsson C. 1998 Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families Journal of Clinical Endocrinology and Metabolism 83 2114 2120
5. Cavaco B.M. Barros L. Pannett A.A. Ruas L. Carvalheiro M. Ruas M.M. Krausz T. Santos M.A. Sobrinho L.G. Leite V. Thakker R.V. 2001 The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred Quarterly Journal of Medicine 94 213 222
6. Hobbs M.R. Pole A.R. Pidwirny G.N. Rosen I.B. Zarbo R.J. Coon H. Heath H. III Leppert M. Jackson CE. 1999 Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cm region on chromosome 1q American Journal of Human Genetics 64 518 525
7. Haven C.J. Wong F.K. van Dam E.W. van der Juijt R. van Asperen C. Jansen J. Rosenberg C. de Wit M. Roijers J. Hoppener J. Lips C.J. Larsson C. Teh B.T. Morreau H. 2000 A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome Journal of Clinical Endocrinology and Metabolism 85 1449 1454
8. Villablanca A. Calender A. Forsberg L. Hoog A. Cheng J.D. Petillo D. Bauters C. Kahnoski K. Ebeling T. Salmela P. Richardson A.L. Delbridge L. Meyrier A. Proye C. Carpten J.D. Teh B.T. Robinson B.G. Larsson C. 2004 Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP) Journal of Medical Genetics 41 e32 38
9. Bradley K.J. Cavaco B.M. Bowl M.R. Harding B. Young A. Thakker R.V. 2005 Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism Journal of Medical Genetics 42 e51 55
10. Carpten J.D. Robbins C.M. Villablanca A. Forsberg L. Presciuttini S. Bailey-Wilson J. Simonds W.F. Gillanders E.M. Kennedy A.M. Chen J.D. Agarwal S.K. Sood R. Jones M.P. Moses T.Y. Haven C. Petillo D. Leotlela P.D. Harding B. Cameron D. Pannett A.A. Hoog A. Heath H. III James-Newton L.A. Robinson B. Zarbo R.J. Cavaco B.M. Wassif W. Perrier ND. Rosen IB. Kristoffersson U. Turnpenny P.D. Farnebo L.O. Besser G.M. Jackson C.E. Morreau H. Trent J.M. Thakker R.V. Marx S.J. The B.T. Larsson C. Hobbs M.R. 2002 HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome Nature Genetics 32 676 680
11. Rozenblatt-Rosen O. Hughes C.M. Nannepaga S.J. Shanmugam K.S. Copeland T.D. Guszczynski T. Resau J.H. Meyerson M. 2005 The parafibromin tumor suppressor protein is part of a human paf1 complex Molecular and Cellular Biology 25 612 620
12. Yart A. Gstaiger M. Wirbelauer C. Pecnik M. Anastasiou D. Hess D. Krek W. 2005 The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II Molecular and Cellular Biology 25 5052 5060
13. Shattuck T.M. Valimaki S. Obara T. Gaz R.D. Clark O.H. Shoback D. Wierman M.E. Tojo K. Robbins C.M. Carpten J.D. Farnebo L.O. Larsson C. Arnold A. 2003 Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma New England Journal of Medicine 349 1722 1729
14. Bradley K.J. Hobbs M.R. Buley I.D. Carpten J.D. Cavaco B.M. Fares J.E. Laidler P. Manek S. Robbins C.M. Salti I.S. Thompson N.W. Jackson C.E. Thakker R.V. 2005 Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome Journal of Internal Medicine 257 18 26
15. Howell V.M. Haven C.J. Kahnoski K. Khoo S.K. Petillo D. Chen J. Fleuren G.J. Robinson B.G. Delbridge L.W. Philips J. Nelson A.E. Krause U. Hammje K. Dralle H. Hoang-Vu C. Gimm O. Marsh D.J. Morreau H. Teh B.T. 2003 HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours Journal of Medical Genetics 40 657 663
16. Cavaco B.M.L.G. Bradley K.J.D.C. Harding B.A.O. Santos M.A. Sobrinho L.G. Thakker R.V. Leite V. 2004 Hyperparathyroidism (HPT)-jaw tumour syndrome in Roma families from Portugal is due to a founder mutation in the HRPT2 gene Journal of Clinical Endocrinology and Metabolism 89 1747 1752
17. Simonds W.F. Robbins C.M. Agarwal S.K. Hendy G.N. Carpten J.D. Marx S.J. 2004 Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome Journal of Clinical Endocrinology and Metabolism 89 96 102
18. Cetani F. Pardi E. Borsari S. Viacava P. Dipollina G. Cianferotti L. Ambrogini E. Gazzerro E. Colussi G. Berti P. Miccoli P. Pinchera A. Marcocci C. 2004 Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors Journal of Clinical Endocrinology and Metabolism 89 5583 5591
19. Moon S.D. Park J.H. Kim E.M. Kim J.H. Han J.H. Yoo S.J. Yoon K.H. Kang M.I. Lee K.W. Son H.Y. Kang S.K. Oh S.J. Kim K.M. Yoon S.J. Park J.G. Kim I.J. Kang H.C. Hong S.W. Kim K.R. Cha B.Y. 2005 A novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome Journal of Clinical Endocrinology and Metabolism 90 878 883
20. Knudson A.G. Jr ( 1971 Mutation and cancer: statistical study of retinoblastoma Proceedings of the National Academy of Sciences, USA 68 820 823
21. Krebs L.J. Shattuck T.M. Arnold A. 2005 HRPT2 mutational analysis of typical sporadic parathyroid adenomas Journal of Clinical Endocrinology and Metabolism 90 5015 5017
22. Thakker R.V. Bouloux P. Wooding C. Chotai K. Broad P.M. Spurr N.K. Besser G.M. O'Riordan J.L. 1989 Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11 New England Journal of Medicine 321 218 224
23. Pannett A.A. Thakker R.V. 2001 Somatic mutations in MEN type 1 tumors, consistent with the Knudson 'two-hit' hypothesis Journal of Clinical Endocrinology and Metabolism 86 4371 4374
24. Williamson C. Cavaco B.M. Jauch A. Dixon P.H. Forbes S. Harding B. Holtgreve-Grez H. Schoell B. Pereira M.C. Font A.P. Loureiro M.M. Sobrinho L.G. Santos M.A. Thakker R.V. Jausch A. 1999 Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31 Journal of Bone and Mineral Research 14 230 239
25. Parkinson D.B. Thakker R.V. 1992 A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism Nature Genetics 1 149 152
26. Pagani F. Baralle F.E. 2004 Genomic variants in exons and introns: identifying the splicing spoilers Nature Reviews Genetics 5 389 396
27. Wassif W.S. Farnebo F. Teh B.T. Moniz C.F. Li F.Y. Harrison J.D. Peters T.J. Larsson C. Harris P. 1999 Genetic studies of a family with hereditary hyperparathyroidism-jaw tumour syndrome Clinical Endocrinology 50 191 196
28. Prowse A.H. Webster A.R. Richards F.M. Richard S. Olschwang S. Resche F. Affara N.A. Maher E.R. 1997 Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors American Journal of Human Genetics 60 765 771
29. Vortmeyer A.O. Huang S.C. Pack S.D. Koch C.A. Lubensky I.A. Oldfield E.H. Zhuang Z. 2002 Somatic point mutation of the wild-type allele detected in tumors of patients with VHL germline deletion Oncogene 21 1167 1170
30. Levy D.B. Smith K.J. Beazer-Barclay Y. Hamilton S.R. Vogelstein B. Kinzler K.W. 1994 Inactivation of both APC alleles in human and mouse tumors Cancer Research 54 5953 5958
31. Cheadle J.P. Krawczak M. Thomas M.W. Hodges A.K. Al-Tassan N. Fleming N. Sampson J.R. 2002 Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours Cancer Research 62 363 366
32. Hogg A. Bia B. Onadim Z. Cowell J.K. 1993 Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma Proceedings of the National Academy of Sciences, USA 90 7351 7355