Human Molecular Genetics, Vol 6, 775-779, Copyright © 1997 by Oxford University Press
SM McNeil, A Novelletto, J Srinidhi, G Barnes, I Kornbluth, MR Altherr, JJ Wasmuth, JF Gusella, ME MacDonald and RH Myers
Controversy persists concerning the significance of Huntington disease (HD)
alleles in the 36-39 repeat range. Although some clinically affected
persons have been documented with repeats in this range, elderly unaffected
individuals have also been reported. We examined 10 paternal transmissions
of HD alleles of 37-39 repeats in collateral branches of families with de
novo HD. All 10 descendants, including many who are elderly, are without
symptoms of HD. Forty percent of the transmissions were unstable, although
none varied by more than one repeat. The observation that individuals with
alleles of 37-39 repeats may survive unaffected beyond common life
expectancy supports the presence of reduced penetrance for HD among some
persons with repeat sizes which overlap the clinical range. Non-penetrance
may be increased in the collateral branches of de novo mutation families
when compared to penetrance estimates from patient series. There was no
CAA-->CAG mutation for the penultimate glutamine in either a de novo
expanded 42 repeat allele or the corresponding non-penetrant 38 repeat
allele in a family with fresh mutation to HD.
ARTICLES
Reduced penetrance of the Huntington's disease mutation
Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA.
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