Distribution of the B33 CTG repeat polymorphism in a subtype of schizophrenia

Dietmar Bengel; Ursula Balling; Gerald Stöber; Armin Heils; Shi Hua Li; Cristopher A. Ross; Gerd Jungkunz; Ernst Franzek; Helmut Beckmann; Peter Riederer; Klaus Peter Lesch

doi:10.1007/s004060050021

Distribution of the B33 CTG repeat polymorphism in a subtype of schizophrenia

Dietmar Bengel, Ursula Balling, Gerald Stöber, Armin Heils, Shi Hua Li, Cristopher A. Ross, Gerd Jungkunz, Ernst Franzek, Helmut Beckmann, Peter Riederer, Klaus Peter Lesch

School of Medicine

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, suggests that trinucleotide repeat expansions may be involved in the aetiology of this disorder. Since genes with triplet repeats are putative canditates for causing schizophrenia, we have analysed the polymorphic B33 CTG repeat locus on chromosome 3 in 45 patients with periodic catatonia and 43 control subjects. The B33 CTG repeat locus was highly polymorphic, but all alleles in both the patient and control groups had repeat lengths within the normal range. We conclude that susceptibility to periodic catatonia is not influenced by variation at the B33 CTG repeat locus. Nevertheless, that periodic catatonia displays dominant inheritance and anticipation, characteristic of genetic disorders involving trinucleotide repeats, justifies further screening for triplet repeat expansions in this illness.

Original language	English (US)
Pages (from-to)	78-81
Number of pages	4
Journal	European Archives of Psychiatry and Clinical Neuroscience
Volume	248
Issue number	2
DOIs	https://doi.org/10.1007/s004060050021
State	Published - Apr 1998

Keywords

Anticipation
Association study
B33 CTG repeat locus
Periodic catatonia
Schizophrenia

ASJC Scopus subject areas

Psychiatry and Mental health
Biological Psychiatry
Pharmacology (medical)

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10.1007/s004060050021

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title = "Distribution of the B33 CTG repeat polymorphism in a subtype of schizophrenia",

abstract = "Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, suggests that trinucleotide repeat expansions may be involved in the aetiology of this disorder. Since genes with triplet repeats are putative canditates for causing schizophrenia, we have analysed the polymorphic B33 CTG repeat locus on chromosome 3 in 45 patients with periodic catatonia and 43 control subjects. The B33 CTG repeat locus was highly polymorphic, but all alleles in both the patient and control groups had repeat lengths within the normal range. We conclude that susceptibility to periodic catatonia is not influenced by variation at the B33 CTG repeat locus. Nevertheless, that periodic catatonia displays dominant inheritance and anticipation, characteristic of genetic disorders involving trinucleotide repeats, justifies further screening for triplet repeat expansions in this illness.",

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author = "Dietmar Bengel and Ursula Balling and Gerald St{\"o}ber and Armin Heils and Li, {Shi Hua} and Ross, {Cristopher A.} and Gerd Jungkunz and Ernst Franzek and Helmut Beckmann and Peter Riederer and Lesch, {Klaus Peter}",

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AU - Bengel, Dietmar

AU - Balling, Ursula

AU - Stöber, Gerald

AU - Heils, Armin

AU - Li, Shi Hua

AU - Ross, Cristopher A.

AU - Jungkunz, Gerd

AU - Franzek, Ernst

AU - Beckmann, Helmut

AU - Riederer, Peter

AU - Lesch, Klaus Peter

PY - 1998/4

Y1 - 1998/4

N2 - Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, suggests that trinucleotide repeat expansions may be involved in the aetiology of this disorder. Since genes with triplet repeats are putative canditates for causing schizophrenia, we have analysed the polymorphic B33 CTG repeat locus on chromosome 3 in 45 patients with periodic catatonia and 43 control subjects. The B33 CTG repeat locus was highly polymorphic, but all alleles in both the patient and control groups had repeat lengths within the normal range. We conclude that susceptibility to periodic catatonia is not influenced by variation at the B33 CTG repeat locus. Nevertheless, that periodic catatonia displays dominant inheritance and anticipation, characteristic of genetic disorders involving trinucleotide repeats, justifies further screening for triplet repeat expansions in this illness.

AB - Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, suggests that trinucleotide repeat expansions may be involved in the aetiology of this disorder. Since genes with triplet repeats are putative canditates for causing schizophrenia, we have analysed the polymorphic B33 CTG repeat locus on chromosome 3 in 45 patients with periodic catatonia and 43 control subjects. The B33 CTG repeat locus was highly polymorphic, but all alleles in both the patient and control groups had repeat lengths within the normal range. We conclude that susceptibility to periodic catatonia is not influenced by variation at the B33 CTG repeat locus. Nevertheless, that periodic catatonia displays dominant inheritance and anticipation, characteristic of genetic disorders involving trinucleotide repeats, justifies further screening for triplet repeat expansions in this illness.

KW - Anticipation

KW - Association study

KW - B33 CTG repeat locus

KW - Periodic catatonia

KW - Schizophrenia

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Distribution of the B33 CTG repeat polymorphism in a subtype of schizophrenia

Abstract

Keywords

ASJC Scopus subject areas

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