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Intergeneration CAG expansion and contraction in a Chinese HD family
Author(s) -
Tang Yanping,
Wang Ying,
Yang Ping,
Liu Yuan,
Wang Bo,
Podolsky Robert,
McIndoe Richard,
Wang CongYi
Publication year - 2006
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30261
Subject(s) - allele , contraction (grammar) , juvenile , trinucleotide repeat expansion , biology , genetics , germline , medicine , endocrinology , gene
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.