患有考登综合征和班纳扬-莱利-鲁瓦尔卡瓦综合征的家族中的种系PTEN突变。

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

作者信息

Zori R T, Marsh D J, Graham G E, Marliss E B, Eng C

机构信息

Department of Pediatrics, University of Florida, Gainesville 32606, USA.

出版信息

Am J Med Genet. 1998 Dec 4;80(4):399-402.

PMID:9856571

Abstract

Clinical overlap between Cowden disease and Bannayan-Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ruvalcaba syndrome. We report on a mother with Cowden disease and a son with Bannayan-Riley-Ruvalcaba syndrome. Mutation analysis of the PTEN gene demonstrated a heterozygous nonsense mutation R130X in both individuals. This might suggest that Cowden disease and Bannayan-Riley-Ruvalcaba syndrome are one causal entity.

摘要

考登病（Cowden disease）与班纳扬-莱利-鲁瓦尔卡瓦综合征（Bannayan-Riley-Ruvalcaba syndrome）之间的临床重叠情况鲜有报道，并且在一些考登病家族和部分班纳扬-莱利-鲁瓦尔卡瓦综合征病例中已证实PTEN基因存在相同的胚系突变。我们报告了一位患有考登病的母亲和一个患有班纳扬-莱利-鲁瓦尔卡瓦综合征的儿子。PTEN基因的突变分析显示两人均存在杂合性无义突变R130X。这可能表明考登病和班纳扬-莱利-鲁瓦尔卡瓦综合征是同一病因实体。