Disturbed serine metabolism and psychosis in a patient with a de novo translocation (2;10)(p23;q22.1)

Genetic Counseling

Volumn 17, Issue 4, 2006, Pages 421-428

  Verhoeven, W M A ^a,b   Van Ravenswaaij Arts, C M A ^c   De Leeuw, N ^c   Fekkes, D ^b   Van Der Heijden, F M M A ^a   Egger, J I M ^a,d   Tuinier, S ^a  

^a VINCENT VAN GOGH INSTITUTE FOR PSYCHIATRY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

Amino acids; Psychotic disorder; Pterins; t(2; 10)(p23; q22.1)

Indexed keywords

CARBON; DNA; METHIONINE; RISPERIDONE; SERINE; TAURINE; VALPROIC ACID;

ADULT; AFFECTIVE PSYCHOSIS; ANAMNESIS; ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DRUG BLOOD LEVEL; FEMALE; GENE TRANSLOCATION; HALLUCINATION; HUMAN; KARYOTYPE 46,XX; LABORATORY TEST; MENTAL DEFICIENCY; METAPHASE CHROMOSOME; PHYSICAL EXAMINATION; PROMOTER REGION; PROPHYLAXIS; PROTEIN METABOLISM; PSYCHOSIS; RECURRENT DISEASE; VELOCARDIOFACIAL SYNDROME;

ADULT; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 2; DIGEORGE SYNDROME; FEMALE; HUMANS; HYDRO-LYASES; IN SITU HYBRIDIZATION; KARYOTYPING; METHIONINE; PSYCHOTIC DISORDERS; PTERINS; SERINE; TAURINE; TRANSLOCATION, GENETIC;

EID: 33847256312     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. BASSET A.S., CHOW E.W.C., WEKSBERG R.: Chromosomal abnormalities and schizophrenia. Am. J. Med. Genet., 2000, 97, 45-51.
2. CARDNO A.G., SHAM P.C., MURRAY R.M., MC GUFFIN P.: Twin study symptom dimensions in psychoses. Br. J. Psychiatry, 2001, 179, 39-45.
3. CHAO H.M., RICHARDSON M.A.: Aromatic amino acid hydroxylase genes and schizophrenia. Am. J. Med. Genet. (Neuropsychiat. Genet.), 2002, 114, 626-630.
4. CITRON B.A., KAUFMAN S., MILSTIEN S., NAYLOR E.W., GREENE C.L., DAVIS M.D.: Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninaemia with defective cofactor metabolism. Am. J. Hum. Genet., 1993, 53, 768-774.
5. FEKKES D., PEPPLINKHUIZEN L.: Amino acid studies in transient acute polymorphic psychosis. Amino Acids, 1997, 12, 107-117.
6. HOEKSTRA R., VAN DEN BROEK W.W., FEKKES D., BRUIJN J.A., MULDER P.G.H., PEPPLINKHUIZEN L.: Effect of ECT treatment on biopterin and large neutral amino acids in severe, medication resistant depression. Pychiatry Res., 2001, 103, 115-123.
7. KAPATOS G., HIRAYAMA K., LENTZ S.I., ZHU M., STEGENGA S.: Differential metabolism of tetrahydrobiopterin in monoamine neurons: a hypothesis based upon clinical and basic research. Adv. Exp. Med. Biol., 1993, 338, 217-222.
8. MCGRATH J., EL-SAADI O., GRIM V., CARDY S., CHANT D., LIEBERMAN D., MOWRY B.: Minor physical anomalies and quantitative measures of the head and face in patients with psychosis. Arch. Gen. Psychiatry, 2002, 59, 458-464.
9. PEPPLINKHUIZEN L., VAN DER HEIJDEN F.M.M.A., TUINIER S., VERHOEVEN W.M.A., FEKKES D.: The acute transient polymorphic psychosis: a biochemical subtype of the cycloid psychosis. Acta Neuropsychiatr., 2003, 15, 38-43.
10. RILEY B.P., MCGUFFIN P.: Linkage and associated studies of schizophrenia. Am. J. Med. Genet., 2000, 97, 23-44.
11. SCHIFFMAN J., ELSTROM M., LABRIE J., SSCHULSINGER F., SORENSEN S., MEDNICK S.: Minor physical anomalies and schizophrenia spectrum disorders. A prospective investigation. Am. J. Psychiatry, 2002, 159 238-243.
12. SCUTT L.E., CHOW E.W.C., WEKSBERG R., HONER W.G., BASSETT A.S.: Patterns of dysmorphic features in schizophrenia. Am. J. Med. Genet. (Neuropsychiat. Genet.), 2001, 105, 713-723.
13. THONY B., AUERBACH G., BLAU N.: Tetrahydrobiopterin biosynthesis, regeneration and function. Biochem. J., 2000, 347, 1-16.
14. VAN AMSTERDAM J.G.C., OPPERHUIZEN A.: Nitric oxide and biopterin in depression and stress. Psychiatry Res., 1999, 85, 33-38.
15. VERHOEVEN W.M.A., CURFS L.G.M., TUINIER S.: Prader-Willi syndrome and cycloid psychoses. J. Intellect. Disabil. Res., 1998, 42, 455-462.
16. VERHOEVEN W.M.A., TUINIER S.: Cyclothymia or unstable mood disorder? A systematic treatment evaluation with valproic acid. J. Appl. Res. Intellect. Disabil., 2001, 14, 147-154.
17. VERHOEVEN W.M.A., TUINIER S., CURFS L.M.G.: Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy. J. Med Genet., 2003, 40, e112.
18. VISSERS L.E.L.M., DE VRIES B.B.A., OSOEGAWA K., JANSSEN I.M., FEUTH T., CHOY C.O., STRAATMAN H., VAN DER VLIET W., HUYS E.H., VAN RIJK A., SMEETS D., VAN RAVENSWAAYARTS C.M., KNOERS N.V., VAN DER BURGT I., DE JONG P.J., BRUNNER H.G., VAN KESSEL A.G., SCHOENMAKERS E.F., VELTMAN J.A.: Array-based comparative genomic hybridization for the genome wide detection of submicroscopic chromosomal abnormalities. Am. J. Hum. Genet., 2003, 73, 1261-1270.
19. VOGELS A., VERHOEVEN W.M.A., TUINIER S., DEVRIENDT K., SWILLEN A., CURFS L.M.G., FRYNS J.P.: The psychopathological phenotype of velo-cardio-facial syndrome. Ann. Genet., 2002, 45, 89-95.
20. WICKHAM H., WALSH C., ASHERSON P., GILL M., OWEN M.J., MCGUFFIN P., MURRAY R., SHAM P.: Familiality of clinical characteristics in schizophrenia. J. Psychiatr. Res., 2002, 36, 325-32.