Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.
Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.
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患有仅限于 APC 基因特定区域的突变的家族中的严重加德纳综合征。
DOI：
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发表时间：
1995
影响因子：
9.8
通讯作者：
Evans
中科院分区：
文献类型：
--
作者：
D. R. Davies;G.;Armstrong;N. Thakker;K. Horner;S. Guy;T. Clancy;P. Sloan;V. Blair;C. Dodd;T. Warnes;Rodney Harris;R. D.Gareth;Evans
家族性腺瘤性息肉病（FAP）伴有许多肠外表现，包括骨瘤、表皮样囊肿和硬纤维瘤，通常被称为“加德纳综合征”。“最近的研究表明，FAP的一些表型特征取决于APC基因内突变的位置。特别是，先天性视网膜色素上皮细胞肥大（CHRPE）和APC基因型之间的相关性表明，受影响的家庭可以分为不同的群体。我们在一个FAP家族的区域队列中调查了牙科全景X线片（DPRs）上GS的牙骨质特征与APC基因型之间的关联。对来自36个家庭的84名受影响的个体进行DPR，并通过加权评分系统量化FAP的牙-骨特征。69%的受影响个体存在显著的DPR异常。APC基因突变被确定在这些家庭中的27个，并进行统计分析，这些被细分为三组。第1组包括来自7个外显子9 5'突变家族的18名受影响个体;这些家族（除一个外）不表达CHRPE。第2组包括来自16个外显子9和密码子1444之间的突变的38个个体，所有这些个体都表达CHRPE。第3组包括来自4个家族的11名个体，其密码子1444的3'突变均不表达CHRPE。具有密码子1444 3'突变的家族在DPR上的病变明显更多（P < .001），并且硬纤维瘤的发生率似乎更高。这些结果表明，加德纳综合征的一些特征的严重程度可能与FAP的基因型相关。
Familial adenomatous polyposis (FAP) is associated with a number of extraintestinal manifestations, which include osteomas, epidermoid cysts, and desmoid tumors, often referred to as "Gardner syndrome." Recent studies have suggested that some of the phenotypic features of FAP are dependent on the position of the mutation within the APC gene. In particular, the correlation between congenital hypertrophy of the retinal pigment epithelium (CHRPE) and APC genotype indicates that affected families may be divided into distinct groups. We have investigated the association between the dentoosseous features of GS on dental panoramic radiographs (DPRs) and APC genotype in a regional cohort of FAP families. DPRs were performed on 84 affected individuals from 36 families, and the dento-osseous features of FAP were quantified by a weighted scoring system. Significant DPR abnormalities were present in 69% of affected individuals. The APC gene mutation was identified in 27 of these families, and for statistical analysis these were subdivided into three groups. Group 1 comprised 18 affected individuals from seven families with mutations 5' of exon 9; these families (except one) did not express CHRPE. Groups 2 comprised 38 individuals from 16 families with mutations between exon 9 and codon 1444, all of whom expressed CHRPE. Group 3 comprised 11 individuals from four families with mutations 3' of codon 1444, none of whom expressed CHRPE. Families with mutations 3' of codon 1444 had significantly more lesions on DPRs (P < .001) and appeared to have a higher incidence of desmoid tumors. These results suggest that the severity of some of the features of Gardner syndrome may correlate with genotype in FAP.
影响因子：
4.4
作者：
SHEFFIELD, VC;BECK, JS;STONE, EM
通讯作者：
STONE, EM
影响因子：
158.5
作者：
POWELL, SM;PETERSEN, GM;KINZLER, KW
通讯作者：
KINZLER, KW
影响因子：
56.9
作者：
KINZLER, KW;NILBERT, MC;NAKAMURA, Y
通讯作者：
NAKAMURA, Y