Anticipation and repeat expansion in bipolar disorder

O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 2003. Anticipation and repeat expansion in bipolar disorder. American Journal of Medical Genetics 123C (1) , pp. 10-17. 10.1002/ajmg.c.20009

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Abstract

Anticipation is the phenomenon whereby a disease becomes more severe and/or presents with earlier onset as it is transmitted down through generations of a family. The only known mechanism for true anticipation is a class of mutations containing repetitive sequences exemplified by the pathogenic trinucleotide repeat. Studies of bipolar disorder (BPD) are consistent with the presence of anticipation and, by inference, the possibility that trinucleotide repeats contribute to this disorder, although it is possible that these data are the result of methodological problems. On the assumption that anticipation in BPD may be real, several surveys of the genome of BPD probands for large trinucleotide repeats have been conducted, as have studies of many repeat-containing candidate genes. No pathogenic triplet repeat has yet been unambiguously implicated.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Wiley-Liss
ISSN:	0148-7299
Last Modified:	27 Oct 2022 08:23
URI:	https://orca.cardiff.ac.uk/id/eprint/62165

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