Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 5, 2007, Pages 1934-1937

  Toledo, Rodrigo A ^a   Lourenço Jr , Delmar M ^a   Liberman, Bernardo ^b   Cunha Neto, Malebranche B C ^a   Cavalcanti, Maria G ^a   Moyses, Cinthia B ^a   Toledo, Sergio P A ^a,d   Dahia, Patricia L M ^c,e  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b HOSPITAL BRIGADEIRO   (Brazil)

^c UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^d Unidade de Endocrinologia Pediatrica   (Brazil)

^e Mays Cancer Center at UT Health San Antonio   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATIC HYDROCARBON RECEPTOR; ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG; Y268X; ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN; DNA; PROTEIN;

ACROMEGALY; ADULT; ARTICLE; BRAZIL; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CHILD; CLINICAL FEATURE; DISEASE PREDISPOSITION; FAMILY; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE SECRETING ADENOMA; HUMAN; HYPOPHYSIS ADENOMA; HYPOPHYSIS TUMOR; MALE; MICROADENOMA; NON PROFIT HOSPITAL; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; RISK; SIBLING; UNIVERSITY HOSPITAL; FEMALE; GENETICS; MIDDLE AGED; MUTATION; PEDIGREE; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ACROMEGALY; ADULT; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; GROWTH HORMONE-SECRETING PITUITARY ADENOMA; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PITUITARY NEOPLASMS; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 34249862215     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-2394     Document Type: Article

References (20)

1. Melmed S 2006 Medical progress: acromegaly. N Engl J Med 355:2558-2573
2. Daly AF, Petrossians P, Beckers A 2005 An overview of the epidemiology and genetics of acromegaly. J Endocrinol Invest 28:67-69
3. Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA 2006 Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312: 1228-1230
4. Frohman LA, Eguchi K 2004 Familial acromegaly. Growth Horm IGF Res 14(Suppl A):S90-S96
5. Daly AF, Jaffrain-Rea ML, Ciccarelli A, Valdes-Socin H, Rohmer V, Tamburrano G, Borson-Chazot C, Estour B, Ciccarelli E, Brue T, Ferolla P, Emy P, Colao A, De Menis E, Lecomte P, Penfornis F, Delemer B, Bertherat J, Wemeau JL, De Herder W, Archambeaud F, Stevenaert A, Calender A, Murat A, Cavagnini F, Beckers A 2006 Clinical characterization of familial isolated pituitary adenomas. J Clin Endocrinol Metab 91:3316-3323
6. Gadelha MR, Prezant TR, Une KN, Glick RP, Moskal 2nd SF, Vaisman M, Melmed S, Kineman RD, Frohman LA 1999 Loss of heterozygosity on chromosome 11q13 in two families with acromegaly/gigantism is independent of mutations of the multiple endocrine neoplasia type I gene. J Clin Endocrinol Metab 84:249-256
7. Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, De Herder W, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O, Sabate MI, Bertagna X, Garcia Basavilbaso N, Stalldecker G, Colao A, Ferolla P, Wemeau JL, Caron P, Sadoul JL, Oneto A, Archambeaud F, Calender A, Sinilnikova O, Montanana CF, Cavagnini F, Hana V, Solano A, Delettieres D, Luccio-Camelo DC, Basso A, Rohmer V, Brue T, Bours V, Teh BT, Beckers A 2007 Aryl hydrocarbon receptor interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab 92:1891-1896
8. Iwata T, Yamada S, Mizusawa N, Golam H, Sano T, Yoshimoto K 2007 The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas. Clin Endocrinol (Oxf) 66:499-502
9. Yu R, Bonert V, Saporta I, Raffel LJ, Melmed S 2006 Aryl hydrocarbon receptor interacting protein variants in sporadic pituitary adenomas. J Clin Endocrinol Metab 91:5126-5129
10. Jorge BH, Agarwal SK, Lando VS, Salvatori R, Barbero RR, Abelin N, Levine MA, Marx SJ, Toledo SP 2001 Study of the multiple endocrine neoplasia type 1, growth hormone-releasing hormone receptor, Gsα, and Gi2α genes in isolated familial acromegaly. J Clin Endocrinol Metab 86:542-544
11. Sandrini F, Kirschner LS, Bei T, Farmakidis C, Yasufuku-Takano J, Takano K, Prezant TR, Marx SJ, Farrell WE, Clayton RN, Groussin L, Bertherat J, Stratakis CA 2002 PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex. J Med Genet 39:e78
12. Gadelha MR, Une KN, Rohde K, Vaisman M, Kineman RD, Frohman LA 2000 Isolated familial somatotropinomas: establishment of linkage to chromosome 11q13.1-11q13.3 and evidence for a potential second locus at chromosome 2p16-12. J Clin Endocrinol Metab 85:707-714
13. Meyer BK, Petrulis JR, Perdew GH 2000 Aryl hydrocarbon (Ah) receptor levels are selectively modulated by hsp90-associated immunophilin homolog XAP2. Cell Stress Chaperones 5:243-254
14. Carver LA, LaPres JJ, Jain S, Dunham EE, Bradfield CA 1998 Characterization of the Ah receptor-associated protein, ARA9. J Biol Chem 273:33580-33587
15. Amrani N, Sachs MS, Jacobson A 2006 Early nonsense: mRNA decay solves a translational problem. Nat Rev Mol Cell Biol 7:415-425
16. Tanaka C, Yoshimoto K, Yamada S, Nishioka H, Ii S, Moritani M, Yamaoka T, Itakura M 1998 Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese. J Clin Endocrinol Metab 83:960-965
17. Soares BS, Eguchi K, Frohman LA 2005 Tumor deletion mapping on chromosome 11q13 in eight families with isolated familial somatotropinoma and in 15 sporadic somatotropinomas. J Clin Endocrinol Metab 90:6580-6587
18. Donangelo I, Araujo PB, Antenuzi D, Farage M, Marcondes J, Filho PN, Gadelha MR 2005 Tumor deletion mapping of chromosomal region 13q14 in 43 growth hormone secreting pituitary adenomas. Endocrine 28:131-136
19. Filopanti M, Ronchi C, Ballare E, Bondioni S, Lania AG, Losa M, Gelmini S, Peri A, Orlando C, Beck-Peccoz P, Spada A 2005 Analysis of somatostatin receptors 2 and 5 polymorphisms in patients with acromegaly. J Clin Endocrinol Metab 90:4824-4828
20. Barlier A, Vanbellinghen JF, Daly AF, Silvy M, Jaffrain-Rea ML, Trouillas J, Tamagno G, Cazabat L, Bours V, Brue T, Enjalbert A, Beckers A 2007 Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. J Clin Endocrinol Metab 92:1952-1955