一个与PTEN单一胚系突变相关的家族中Cowden综合征和Bannayan-Zonana综合征的表型发现。
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
作者信息
Celebi J T, Tsou H C, Chen F F, Zhang H, Ping X L, Lebwohl M G, Kezis J, Peacocke M
机构信息
Department of Dermatology, Columbia Presbyterian Hospital, Columbia University, College of Physicians and Surgeons, New York, New York 10032, USA.
出版信息
J Med Genet. 1999 May;36(5):360-4.
Abstract
Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders, suggesting allelism. We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS. To our knowledge, this is the first report that shows the presence of separate subjects with CS and with BZS in a single family associated with a single germline PTEN mutation.
摘要
考登综合征（CS）和班纳扬-佐纳纳综合征（BZS）是两种具有不同表型特征的错构瘤综合征。尽管CS和BZS之间存在部分临床重叠，但它们被认为是不同的疾病实体。PTEN已被确定为这两种疾病的易感基因，提示等位性。我们在一个家族中鉴定出PTEN基因的一个胚系突变R335X，该家族中有两名具有CS表型特征的女性成员和两名具有BZS表型特征的男性成员。据我们所知，这是第一份报告显示在一个与单个胚系PTEN突变相关的家族中存在分别患有CS和BZS的个体。
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