Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

Journal of Medical Genetics

Volumn 42, Issue 8, 2005, Pages 666-672

  Kim, H G ^a   Herrick, S R ^b   Lemyre, E ^c   Kishikawa, S ^a   Salisz, J A ^d   Seminara, S ^a   MacDonald, M E ^a   Bruns, Gap ^e   Morton, C C ^b   Quade, B J ^b   Gusella, James F ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c UNIVERSITY OF MONTREAL   (Canada)

^d West Shore Urology   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; FIBROBLAST GROWTH FACTOR RECEPTOR 1; GONADORELIN; TESTOSTERONE;

ADULT; AGENESIS; ANAMNESIS; ANOSMIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AZOOSPERMIA; CASE REPORT; CELL MIGRATION; CHROMOSOME 7P; CHROMOSOME 8P; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CLEFT LIP PALATE; CLINICAL EXAMINATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE LOCUS; GENE MUTATION; HAPLOIDY; HETEROZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; KARYOTYPE 46,XY; KLINEFELTER SYNDROME; MALE; MALE INFERTILITY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEXUAL DEVELOPMENT; SOUTHERN BLOTTING; X CHROMOSOME LINKAGE;

ADULT; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, PAIR 8; CLEFT LIP; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KALLMANN SYNDROME; MALE; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTANT CHIMERIC PROTEINS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; TRANSLOCATION, GENETIC;

EID: 23744496857     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.026989     Document Type: Article

References (29)

1. Collins FS. Positional cloning moves from perditional to traditional. Nat Genet 1995;9:347-50.
2. Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF, Vallejo M. The importance of autosomal genes in Kallmann syndrome: genotype-pnenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab 2001;86:1532-8.
3. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown C, Willard H, Lawrence C, Persico M, Camerino G, Ballabio A. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991;353:529-36.
4. Schinzel A, Lorda-Sanchez I, Binkert F, Carter NP, Bebb CE, Ferguson-Smith MA, Eiholzer U, Zachmann M, Robinson WP. Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting. J Med Genet 1995;32:957-61.
5. Kikuchi I, Nagamine M, Ueda A, Mihara K, Seita M, Minoda M. Chromosomal translocation t(13;16) in a patient with idiopathic hypogonadotropic hypogonadism. Intern Med 1993;32:465-7.
6. Best LG, Wasdahl WA, Larson LM, Sturlaugson J. Chromosome abnormality in Kallmann syndrome. Am J Med Genet 1990;35:306-9.
7. Vermeulen S, Messiaen L, Scheir P, De Bie S, Speleman F, De Paepe A. Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. Am J Med Genet 2002;108:315-18.
8. Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Corel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003;33:463-5.
9. Anderson MA, Gusella JF. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoia cell lines. In Vitro 1984;20:856-8.
10. Cheung VG, Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN, Furey TS, Kim UJ, Kuo WL, Olivier M, Conroy J, Kasprzyk A, Massa H, Yonescu R, Sait S, Thoreen C, Snijders A, Lemyre E, Bailey JA, Bruzel A, Burrill WD, Clegg SM, Collins S, Dhami P, Friedman C, Han CS, Herrick S, Lee J, Ligon AH, Lowry S, Morley M, Narasimhan S, Osoegawa K, Peng Z, Plajzer-Frick I, Quade BJ, Scott D, Sirotkin K, Thorpe AA, Gray JW, Hudson J, Pinkel D, Ried T, Rowen L, Shen-Ong GL, Strausberg RL, Birney E, Callen DF, Cheng JF, Cox DR, Doggett NA, Carter NP, Eichler EE, Haussler D, Korenberg JR, Morton CC, Albertson D, Schuler G, de Jong PJ, Trask BJ. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 2001;409:953-8.
11. Karolchik D, Baertsch R, Diekhans M, Furey TS, Hinrichs A, Lu YT, Roskin KM, Schwartz M, Sugnet CW, Thomas DJ, Weber RJ, Haussler D, Kent WJ. The UCSC Genome Browser Database. Nucleic Acids Res 2003;31:51-4.
12. Siebert PD, Chenchik A, Kellogg DE, Lukvanov KA, Lukyanov SA. An improved PCR method for walking in uncloned genomic DNA. Nucleic Acids Res 1995;23:1087-8.
13. Carson-Walter EB, Watkins DN, Nanda A, Vogelstein B, Kinzler KW, St Croix B. Cell surface tumor endothelial markers are conserved in mice and humans. Cancer Res 2001;61:6649-55.
14. Chen H, Ishii A, Wong WK, Chen LB, Lo SH. Molecular characterization of human tensin. Biochem J 2000;351:403-11.
15. Plotnikov AN, Schlessinger J, Hubbard SR, Mohammadi M. Structural basis for FGF receptor dimerization and activation. Cell 1999;98:641-50.
16. Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab 2004;89:1079-88.
17. Hardelin JP. Kallmann syndrome: towards molecular pathogenesis. Mol Cell Endocrinol 2001;179:75-81.
18. Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. Hum Mol Genet 2004;13:2781-91.
19. Ornitz DM. FGFs, heparan sulfate and FGFRs: complex interactions essential for development. Bioessays 2000;22:108-12.
20. Schlessinger J, Plotnikov AN, Ibrahimi OA, Eliseenkova AV, Yeh BK, Yayon A, Linhardt RJ, Mohammadi M. Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization. Mol Cell 2000;6:743-50.
21. Dode C, Hardelin JP. Kallmann syndrome: fibroblast growth factor signaling insufficiency? J Mol Med 2004;82:725-34.
22. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn U, Rutland P, Reardon W, Malcolm S, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994;8:269-74.
23. Roscioli T, Flanagan S, Kumar P, Masel J, Gattas M, Hyland VJ, Glass IA. Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. Am J Med Genet 2000;93:22-8.
24. Wilkie AO, Morriss-Kay GM. Genetics of craniofacial development and malformation. Nat Rev Genet 2001;2:458-68.
25. Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA. FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet 1998;18:84-7.
26. Popovici C, Adelaide J, Ollendorff V, Chaffanet M, Guasch G, Jacrot M, Leroux D, Birnbaum D, Pebusque MJ. Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). Proc Natl Acad Sci USA 1998;95:5712-17.
27. Popovici C, Zhang B, Gregoire MJ, Jonveaux P, Lafage-Pochitaloff M, Birnbaum D, Pebusque MJ. The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1. Blood 1999;93:1381-9.
28. Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D, Rattner JB, Pebusque MJ. FGFR1 is fused to the centrosome-associated protein CEP1 10 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). Blood 2000;95:1788-96.
29. Demiroglu A, Steer EJ, Heath C, Taylor K, Bentley M, Allen SL, Koduru P, Brody JP, Hawson G, Rodwell R, Doody ML, Carnicero F, Reiter A, Goldman JM, Melo JV, Cross NC. The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. Blood 2001;98:3778-83.