Long repeat tracts at SCA8 in major psychosis

Vincent, John B., Qiu-Ping, Yuan, Schalling, Martin, Adolfsson, R., Azevedo, M. Helena, Macedo, Antonio, Bauer, Amy, Dalla Torre, Camille, Medeiros, Helena M., Pato, Carlos N., Bowen, Timothy ORCID: https://orcid.org/0000-0001-6050-0435, Guy, Carol, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Paterson, Andrew D., Petronis, Arturas and Kennedy, James L. 2000. Long repeat tracts at SCA8 in major psychosis. American Journal of Medical Genetics 96 (6) , pp. 873-876. 10.1002/1096-8628(20001204)96:6<873::AID-AJMG37>3.0.CO;2-9

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Abstract

Expansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinocerebellar ataxia type 8 (SCA8). The trinucleotide repeat, which consists of a [CTA]n repeat and adjacent [CTG]n repeat, was reported to have a pathogenic range of 107–127 CTG repeats (or 110–130 combined CTA and CTG repeats) in a large ataxia kindred. This repeat region was also cloned by our group from a bipolar affective disorder (BPAD) patient, who has approximately 600 combined repeats, and large alleles (>100 repeats) were reported to be present in 0.7% of controls and 1.5% of major psychosis patients (n = 710 and n = 1,120, respectively). We have followed up these findings by screening three new samples of BPAD and schizophrenia (SCZ) patients and controls, including 272 individuals from 14 BPAD families from Sweden, 130 individuals from 32 SCZ and BPAD families/trios from the Azores Islands, and 206 SCZ individuals from the United Kingdom and Ireland, and 219 matched controls. We found large repeat alleles above the SCA8 pathogenic range in individuals from 3 of 32 Azorean pedigrees and in 1 of 206 SCZ individuals from the United Kingdom, and repeat alleles within the SCA8 pathogenic range in 1 of 14 Swedish families. Although the rarity of major psychosis patients carrying the SCA8 expansion mutation would require a much larger sample size to reach statistical significance, these results support the previously reported observation of increased occurrence of large repeats at SCA8 in major psychosis. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:873–876, 2000. © 2000 Wiley-Liss, Inc.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	SCA8; schizophrenia; bipolar affective disorder; trinucleotide repeat expansion
Publisher:	wiley
ISSN:	1552-4833
Last Modified:	12 Dec 2022 08:59
URI:	https://orca.cardiff.ac.uk/id/eprint/58199

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