Kallmann syndrome gene (KAL-X) is not mutated in schizophrenia

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 88, Issue 1, 1999, Pages 34-37

  O'Neill, Michael ^a   Brewer, Warrick ^b   Thornley, Cathy ^b   Copolov, David ^b   Warne, Garry ^a   Sinclair, Andrew ^a,c   Forrest, Sue ^c   Williamson, Robert ^c  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Anosmia; Hypogonadotropic hypogonadism; Kallmann syndrome; KSV model; Schizophrenia

Indexed keywords

ANOSMIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC PREDISPOSITION; HUMAN; HUMAN CELL; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; NEUROTRANSMITTER RELEASE; PRIORITY JOURNAL; RECEPTOR GENE; SCHIZOPHRENIA;

EXTRACELLULAR MATRIX PROTEINS; HUMANS; KALLMANN SYNDROME; MALE; NERVE TISSUE PROTEINS; OLFACTION DISORDERS; POINT MUTATION; POLYMORPHISM, GENETIC; SCHIZOPHRENIA; SEQUENCE ANALYSIS, DNA; SEXUAL BEHAVIOR; TESTOSTERONE;

EID: 0033525056     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990205)88:1<34::AID-AJMG6>3.0.CO;2-6     Document Type: Article

References (32)

1. American Psychiatric Association. 1987. Diagnostic and statistical manual of mental disorder, 3rd Edition-Revised. Washington, DC: American Psychiatric Association. p 187-211.
2. Brewer WJ, Edwards J, Anderson V, Robertson T, Pantelis C. 1996. Neuropsychological, olfactory and hygiene deficits in men with negative symptom schizophrenia. Biol Psychiatry 40:1021-1031.
3. Buchanan RW, Heinrichs DW. 1989. The Neurological Evaluation Scale (NES): A structured instrument for the assessment of neurological signs in schizophrenia. Psychiatry Res 27:335-350.
4. Carlson C, Papolos D, Pandita RK, Faedda GL, Veit S, Goldberg R, Shprintzen R, Kucherlapati R, Morow B. 1997. Molecular analysis of Velo-Cardio-Facial syndrome patients with psychiatric disorders. Am J Hum Genet 60:851-859.
5. Cossee M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Molte MD, Canizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M. 1997. Frataxin fracas. Nat Genet 4:337-338.
6. Cowen, Green. 1993. The Kallmann's syndrome variant model of the schizophrenias. Schizophr Res 9:1-10.
7. DeLisi LE, Devoto M, Lofthouse R, et al. 1994. Search for linkage to schizophrenia on the X and Y Chromosomes. Am J Med Genet 54:113-121.
8. Derogatis LR, Melisaratos N. 1979. The DSFI: A multidimensional measure of sexual functioning. J Sex Marital Ther 5:244-281.
9. Doty R. 1983. The Smell Identification Test Administration Manual. Haddon Heights. NJ: Sensionics, Inc. p 18-19.
10. Doty R, Shaman P, Dann W. 1984. Development of the University of Pennsylvania Smell Test: Standardised micro-encapsulated test of olfactory function. Physiol Behav 32:489-502.
11. Doty RL, Frye RE, Agrawal U. 1989. Internal consistency, reliability of the fractionated and whole University of Pennsylvania Smell Identification Test. Percept Psychophysics 45:381-384.
12. Freedman R, Coon H, Myles-Worsley M, Orr-Urtreger A, Olincy A, Davis A, Polymeropoulos M, Holik J, Hopkins J, Hoff M, Rosenthal J, Waldo MC, Reimherr F, Wender P, Yaw J, Young DA, Breese CR, Adams C, Patterson D, Adler LE, Kruglyak L, Leonard S, Byerley W. 1997. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci USA 94:587-592.
13. Hardelin J-P, Livilliers J, Blancard S, Carel J-C, Leutenegger M, Pinard-Bertelletto J-P, Bouloux P, Petit C. 1993. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet 2:373-377.
14. Harrison PJ, Pearson RCA. 1989. Olfaction and psychiatry. Br J Psychiatry 155:822-828.
15. Hiller W, Zaudig M, Mombour W. 1990. Development of diagnostic checklists for use in routine clinical care. Arch Gen Psychiatry 47:782-784.
16. Holzman PS. 1996. On the trail of the genetics and pathophysiology of schizophrenia. Psychiatry 59:117-127.
17. Jain S, Leggo J, DeLisi LE, Crow TJ, Margolis RL, Li SH, Goodburn S, Walsh C, Paykel ES, Ferguson-Smith MA, Ross CA, Rubinsztein DC. 1996. Analysis of thirteen trinucleotide repeat loci as candidate genes for schizophrenia and bipolar affective disorder. Am J Med Genet 67: 139-146.
18. Kopola L, Clark C, Hurwitz T. 1989. Sex differences in olfactory function in schizophrenia. Am J Psychiatry 146:1320-1322.
19. MacSorley K. 1964. An investigation into the fertility rates of mentally ill patients. Ann Hum Genet 27:247-256.
20. Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215-1216.
21. Murphy KC, Owen MJ. 1996. Schizophrenia, CATCH 22 and FISH. British Journal of Psychiatry 168:397-398.
22. O'Neill MJ, Tridjaja B, Smith MJ, Bell KM, Warne GL, Sinclair AH. 1998. Familial Kallmann syndrome: A novel splice acceptor mutation in the KAL gene. Hum Mutat 11:340-342.
23. Pulver AE. 1995. Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes. Am J Med Genet 60: 252-260.
24. Pulver AE, Karayiorgou M, Wolyniec PS. 1994. Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12-q13.1. Am J Med Genet 54:36-43.
25. Rubinsztein DC, Leggo J, Crow TJ, DeLisi LE, Walsh C, Jain S, Paykel ES. 1996. Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder. Am J Med Genet 67:495-498.
26. Saugstad LF. 1989. Social class, marriage and fertility in schizophrenia. Schizophr Bull 15:9-43.
27. Schizophrenia Linkage Collaborative Group for Chromosomes 3, 6, and 8. 1996. Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study. Am J Med Genet 67:580-594.
28. Seidman LJ, Talbot NL, Kalinowski AG, McCarley RW, Faraone SV, Kremen WS, Pepple JR, Tsuang MT. 1992. Neuropsychological probes of fronto-limbic system dysfunction in schizophrenia: Olfactory identification and Wisconsin Card Sorting performance. Schizophr Res 6:55-65.
29. Stamatoyannopoulos G, Nienhuis A, Majerus P, Varmus H. 1994. The Molecular Basis of Blood Diseases, 2nd ed. Philadelphia: Saunders Co. p 121-125.
30. Straub RE, MacLean CJ, O'Neill FA, Burke J, Murphy B, Duke F, Shinkwin R, Webb BT, Zhang J, Kendler KS. 1995. A potential vulnerability locus for schizophrenia on chromosome 6p24-22: Evidence for genetic heterogeneity. Nat Genet 11:287-293.
31. Wang S, Sun C, Walczak CA, Ziegle JS, Kipps BR, Goldin LR, Diehl SR. 1995. Evidence for a susceptibility locus for schizophrenia on chromosome 6pter-p22. Nat Genet 10:41-46.
32. Wechsler D. 1981. The Wechsler Adult Intelligence Scale-Revised. The Psychological Corporation. New York, p 92-109.