| | |  | | | | Record from Web of Science® | | | | | | |
| Reduced penetrance of the Huntington's disease mutation |
|
|
| Author(s): McNeil SM, Novelletto A, Srinidhi J, Barnes G, Kornbluth I, Altherr MR, Wasmuth JJ, Gusella JF, MacDonald ME, Myers RH |
| Source: HUMAN MOLECULAR GENETICS Volume: 6 Issue: 5 Pages: 775-779 Published: MAY 1997 |
| Times Cited: 50 References: 31 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. BOSTON UNIV, SCH MED, DEPT NEUROL, BOSTON, MA 02118 USA
2. UNIV ROMA TOR VERGATA, DEPT BIOL, I-00173 ROME, ITALY
3. HARVARD UNIV, MASSACHUSETTS GEN HOSP, SCH MED, MOL NEUROGENET UNIT, BOSTON, MA 02114 USA
4. LOS ALAMOS NATL LAB, HLTH RES LAB, LOS ALAMOS, NM 87545 USA
5. UNIV CALIF IRVINE, DEPT BIOL CHEM, IRVINE, CA 92717 USA |
| Publisher: OXFORD UNIV PRESS, GREAT CLARENDON ST, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: WX608 |
| ISSN: 0964-6906 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |