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Intergeneration CAG expansion and contraction in a Chinese HD family

Intergeneration CAG expansion and contraction in a Chinese HD family The prevalence of juvenile‐onset Huntington's disease (HD) is about ten times lower than adult HD. Here we report a Chinese HD family showing both intergeneration CAG expansion and contraction. The expansion resulted from a paternal transmission which leads to juvenile‐onset HD for a 17‐year‐old Chinese boy (III‐5). More interestingly, a contraction was noticed in a maternal transmission (III‐3), which changed the CAG repeat from an expanded, disease‐causing allele (48 repeats) to a normal or intermediate allele (34 repeats). Of note, the contraction resulted in a deletion of 14 CAG repeats, which is much larger than previously reported contractions. Our results are consistent with previous observations in Western Caucasians that juvenile‐onset HD is more likely inherited through the male germline. © 2006 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics part B Wiley

Intergeneration CAG expansion and contraction in a Chinese HD family

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References (10)

Publisher
Wiley
Copyright
Copyright © 2006 Wiley‐Liss, Inc., A Wiley Company
ISSN
1552-4841
eISSN
1552-485X
DOI
10.1002/ajmg.b.30261
pmid
16526033
Publisher site
See Article on Publisher Site

Abstract

The prevalence of juvenile‐onset Huntington's disease (HD) is about ten times lower than adult HD. Here we report a Chinese HD family showing both intergeneration CAG expansion and contraction. The expansion resulted from a paternal transmission which leads to juvenile‐onset HD for a 17‐year‐old Chinese boy (III‐5). More interestingly, a contraction was noticed in a maternal transmission (III‐3), which changed the CAG repeat from an expanded, disease‐causing allele (48 repeats) to a normal or intermediate allele (34 repeats). Of note, the contraction resulted in a deletion of 14 CAG repeats, which is much larger than previously reported contractions. Our results are consistent with previous observations in Western Caucasians that juvenile‐onset HD is more likely inherited through the male germline. © 2006 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics part B – Wiley

Published: Apr 5, 2006

Keywords: Huntington's disease (HD); expansion; contraction; germline; trinucleotide; single nucleotide polymorphism (SNP)

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