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

Psychiatric diagnosing in mentally retarded patients is notoriously difficult and routine application of current taxonomies is of very limited use. Although psychotic disorders in general can be satisfactory grouped on a descriptive level, the aetiology is most probably very heterogeneous. In this c...

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Published inGenetic counseling Vol. 17; no. 4; p. 421
Main Authors Verhoeven, W M A, Van Ravenswaaij-Arts, C M A, De Leeuw, N, Fekkes, D, Van der Heijden, F M M A, Egger, J I M, Tuinier, S
Format Journal Article
LanguageEnglish
Published Switzerland 2006
Subjects
Adult
Chromosomes, Human, Pair 10 - genetics
Chromosomes, Human, Pair 2 - genetics
DiGeorge Syndrome - complications
DiGeorge Syndrome - genetics
Female
Humans
Hydro-Lyases - genetics
In Situ Hybridization
Karyotyping
Methionine - blood
Psychotic Disorders - genetics
Psychotic Disorders - metabolism
Psychotic Disorders - physiopathology
Pterins - metabolism
Serine - genetics
Serine - metabolism
Taurine - blood
Translocation, Genetic - genetics
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Summary:Psychiatric diagnosing in mentally retarded patients is notoriously difficult and routine application of current taxonomies is of very limited use. Although psychotic disorders in general can be satisfactory grouped on a descriptive level, the aetiology is most probably very heterogeneous. In this case report a female patient is described who presented with mild mental retardation and recurrent affective psychotic episodes. Chromosome analysis showed a female karyotype with a de novo translocation (2;10)(p23;q22.1). Biochemical evaluation demonstrated a persistently increased taurine and decreased methionine in plasma, suggesting a disturbed one-carbon metabolism. Treatment with risperidone in combination with valproic acid resulted in prevention of further relapses and stabilisation of mood. An imbalance of chromosomes 2 and 10 was excluded by array CGH. A disruption of the PCBD gene could not be demonstrated by FISH.
ISSN:1015-8146