期刊
FAMILIAL CANCER
卷 7, 期 2, 页码 173-177出版社
SPRINGER
DOI: 10.1007/s10689-007-9169-1
关键词
familial adenomatous polyposis (FAP); gonadal mosaicism; de novo mutation; adenomatous polyposis coli (APC)
资金
- NCI NIH HHS [R01-CA040641, P01-CA073992] Funding Source: Medline
De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children. A third child, with the same APC allelic haplotype received a normal APC allele, suggesting that the mutation originated in the gonadal tissues of the mother. These results underscore the utility of mutation-specific genetic testing for the parents and siblings of a proband of an adult-onset disease, even if the proband appears to have a de novo mutation. Parents who test negative for the mutation should be counseled about the possibility of having another affected child due to gonadal mosaicism.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据