Sutphen R, Diamond T M, Minton S E, Peacocke M, Tsou H C, Root A W
Department of Pediatrics, University of South Florida College of Medicine and H. Lee Moffitt Cancer Center and Research Institute, Tampa 33612, USA.
Am J Med Genet. 1999 Feb 12;82(4):290-3. doi: 10.1002/(sici)1096-8628(19990212)82:4<290::aid-ajmg3>3.0.co;2-0.
Germline mutations in the PTEN gene have recently been identified in some individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and Bannayan-Zonana syndrome. We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene. Direct sequence analysis detected a transitional change (T-->C) at nucleotide 335, resulting in substitution of the amino acid proline for leucine. The mutation is in exon 5, which has been proposed as a "hot-spot" for germline mutations. Comparison of this patient's clinical course with the previously reported cases of CD and LDD shows more extensive and more severe clinical findings than reported previously. Findings in this patient contribute to the current understanding of germline PTEN mutations and clinical outcome.
最近在一些患有考登病（CD）、Lhermitte-Duclos病（LDD）和Bannayan-Zonana综合征的个体中发现了PTEN基因的种系突变。我们报告了一名患有CD和LDD的患者，其PTEN基因中存在一种独特的新生种系错义突变。直接序列分析检测到核苷酸335处的转换变化（T→C），导致亮氨酸被脯氨酸取代。该突变位于外显子5，外显子5被认为是种系突变的“热点”。将该患者的临床病程与先前报道的CD和LDD病例进行比较，发现其临床表现比先前报道的更为广泛和严重。该患者的发现有助于目前对种系PTEN突变和临床结果的理解。
