Intergeneration CAG expansion and contraction in a Chinese HD family

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
Yanping TangCong-Yi Wang

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.

References

Dec 1, 1993·Journal of Medical Genetics·M E MacDonaldJ Penney
Sep 13, 2001·Mental Retardation and Developmental Disabilities Research Reviews·M A Nance, R H Myers
Sep 24, 2004·Journal of the American Academy of Child and Adolescent Psychiatry·Pia DuesterhusMichael Schulte-Markwort
Apr 26, 2005·Journal of Neuroscience Methods·Jesse M HunterPeter J Detloff

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Citations

Aug 10, 2007·Neuroscience Bulletin·Yuan LiuYan-Ping Tang
Jan 9, 2016·Molecular Neurobiology·Yi-Min SunZhi-Ying Wu
Jan 30, 2014·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·H JiangUNKNOWN Chinese HD Network

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