Intergeneration CAG expansion and contraction in a Chinese HD family

Yanping Tang, Ying Wang, Ping Yang, Yuan Liu, Bo Wang, Robert Podolsky, Richard A McIndoe, Cong Yi Wang

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)242-244
Number of pages3
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume141 B
Issue number3
DOIs
StatePublished - Apr 5 2006

Keywords

  • Contraction
  • Expansion
  • Germline
  • Huntington's disease (HD)
  • Single nucleotide polymorphism (SNP)
  • Trinucleotide

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

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