Naylor E W, Gardner E J
Clin Genet. 1977 Jun;11(6):381-93. doi: 10.1111/j.1399-0004.1977.tb01332.x.
The Gardner syndrome is an autosomal dominant condition characterized by multiple polyposis of the colon, associated with various soft- and hard-tissue tumors. Our original kindred, first reported in the early 1950's has been updated and serves as the basis for a discussion of the penetrance and expressivity of the gene responsible for the syndrome. The family consists of 188 members spread over six generations, with 28 individuals clearly documented as having the syndrome. Using two different methods of calculating penetrance, the responsible gene was found to be fully penetrant. This observation was confirmed by an analysis of 160 additional sibships from the literature. This estimation of penetrance is considerably higher than has been previously reported. The expressivity of the gene, however, is quite variable, and this is illustrated using examples from both our kindred and the literature.
加德纳综合征是一种常染色体显性疾病，其特征为结肠多发息肉，并伴有各种软组织和硬组织肿瘤。我们最初于20世纪50年代初报道的家族谱系已得到更新，并作为讨论该综合征相关基因外显率和表现度的基础。这个家族由分布在六代的188名成员组成，其中有28人被明确记录患有该综合征。通过两种不同的计算外显率的方法，发现致病基因具有完全外显率。对文献中另外160个同胞关系的分析证实了这一观察结果。这种外显率的估计比之前报道的要高得多。然而，该基因的表现度变化很大，本文通过我们家族谱系和文献中的例子对此进行了说明。
