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 language | English (US) |
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Pages (from-to) | 242-244 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics - Neuropsychiatric Genetics |
Volume | 141 B |
Issue number | 3 |
DOIs | |
State | Published - 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