A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters
2000 | journal article. A publication with affiliation to the University of Göttingen.
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A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters
Laccone, F. A. & Christian, W. (2000)
The American Journal of Human Genetics, 66(3) pp. 1145-1148. DOI: https://doi.org/10.1086/302810
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- Authors
- Laccone, Franco A.; Christian, W.
- Abstract
- Large intergenerational repeat expansions of the CAG trinucleotide repeat in the HD gene have been well documented for the male germline. We describe a recurrent large expansion of a maternal allele with 36 CAG repeats (to 66 and 57 repeats, respectively, in two daughters) associated with onset of Huntington disease (HD) in the second and third decade in a family without history of HD. Our findings give evidence of a gonadal mosaicism in the unaffected mother. We hypothesize that large expansions also occur in the female germline and that a negative selection of oocytes with long repeats might explain the different instability behavior of the male and the female germlines.
- Issue Date
- 2000
- Status
- published
- Publisher
- Univ Chicago Press
- Journal
- The American Journal of Human Genetics
- ISSN
- 0002-9297