The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the a-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies

International Journal of Molecular Medicine

Volumn 19, Issue 3, 2007, Pages 429-435

  Panza, Emanuele ^a   Gimelli, Giorgio ^b   Passalacqua, Mario ^b   Cohen, Amnon ^c   Gimelli, Stefania ^d   Giglio, Sabrina ^d   Ghezzi, Cristina ^e   Sparatore, Bianca ^b   Heye, Babett ^f   Zuffardi, Orsetta ^d   Rugarli, Elena ^e   Meitinger, Thomas ^f   Romeo, Giovanni ^a   Ravazzolo, Roberto ^b,g   Seri, Marco ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c San Paolo Hospital   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f INSTITUTE OF EPIDEMIOLOGY   (Germany)

^g G GASLINI INSTITUTE   (Italy)

Author keywords

AKAP2; Anosmia; Hypogonadotropic hypogonadism; Kallmann syndrome; UCC1

Indexed keywords

AKAP2 PROTEIN, HUMAN; AKAP2 PROTEIN, MOUSE; MEMBRANE PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ANIMAL; ARTICLE; BONE DISEASE; CASE REPORT; CHROMOSOME 7; CHROMOSOME 9; CHROMOSOME BREAKAGE; EMBRYO; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION REGULATION; GENE TRANSLOCATION; GENETICS; HUMAN; KALLMANN SYNDROME; KARYOTYPING; MALE; METABOLISM; MOUSE; NUCLEOTIDE SEQUENCE; OLFACTORY SYSTEM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ANIMALS; BONE DISEASES; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, PAIR 9; DNA MUTATIONAL ANALYSIS; EMBRYO; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KALLMANN SYNDROME; KARYOTYPING; MALE; MEMBRANE PROTEINS; MICE; OLFACTORY PATHWAYS; TRANSLOCATION, GENETIC;

EID: 33947495813     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.19.3.429     Document Type: Article

References (13)

1. Kallmann FJ, Schoenfeld WA and Barrera SE: The genetic aspects of primary eunuchoidism. Am J Ment Defic 48: 203-236, 1944.
2. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon- Miller P, et al: A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353: 529-536, 1991.
3. 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, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C and Hardelin JP: Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33: 463-465, 2003. (Pubitemid 36390006)
4. Rugarli EI, Lutz B, Kuratani SC, Wawersik S, Borsani G, Ballabio A and Eichele: Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet 4: 19-26, 1993.
5. Dong F, Feldmesser M, Casadevall A and Rubin CS: Molecular characterization of a cDNA that encodes six isoforms of a novel murine A kinase anchor protein. J Biol Chem 13: 6533-6541, 1998.
6. Best LG, Wasdahl WA, Larson LM and Sturlaugson J: Chromosome abnormality in Kallmann syndrome. Am J Med Genet 35: 306-309, 1990.
7. Casamassima AC, Wilmot PL, Vibert BK and Shapiro LR: Kallmann syndrome associated with complex chromosome rearrangement. Am J Med Genet 45: 539-541, 1993.
8. Schinzel A, Lorda-Sanchez I, Binkert F, Carter NP, Bebb CE, Ferguson-Smith MA, Eiholzer U, Zachmann M and Robinson WP: Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting. J Med Genet 32: 957-961, 1995.
9. Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, et al: The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67: 423-435, 1991.
10. Sato N, Ohya K, Fukami M, Okada M and Ogata T: Kallmann syndrome: Somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son. J Clin Endocrinol Metab (in press).
11. Schmidt R, Rother S, Schlingensiepen KH and Brysch W: Neuronal plasticity depending on a glycoprotein synthesized in goldfish leptomeninx. Prog Brain Res 91: 7-12, 1992.
12. Apostolopoulos J, Sparrow RL, McLeod JL, Collier FM, Darcy PK, Slater HR, Ngu C, Gregorio-King CC and Kirkland MA: Identification and characterization of a novel family of mammalian ependymin-related proteins (MERPs) in hematopoietic, non-hematopoietic, and malignant tissues. DNA Cell Biol 20: 625-635, 2001.
13. Yoshida T, Ito A, Matsuda N and Mishina M: Regulation by protein kinase A switching of axonal pathfinding of zebrafish olfactory sensory neurons through the olfactory placode-olfactory bulb boundary. J Neurosci 15: 4964-4972, 2002.