Kruse R, Lamberti C, Wang Y, Ruelfs C, Bruns A, Esche C, Lehmann P, Ruzicka T, Rütten A, Friedl W, Propping P
Institute of Human Genetics, University of Bonn, Germany.
Hum Genet. 1996 Dec;98(6):747-50. doi: 10.1007/s004390050298.
The Muir-Torre syndrome (MTS) is a rare autosomal-dominant condition characterized by the occurrence of sebaceous skin lesions and internal tumours in a patient. It has been demonstrated that at least a subgroup of MTS exhibits clinical and molecular genetic features of hereditary nonpolyposis colorectal cancer, including microsatellite instability in skin and visceral tumours, because of mutations in DNA mismatch repair genes. We have identified germline mutations in the hMSH2 gene in two unrelated MTS patients ascertained because of their skin tumours. Our results, together with published MTS cases, support the hypothesis that MTS with its characteristic skin lesions is confined to mutations in the hMSH2 gene.
穆尔-托雷综合征（MTS）是一种罕见的常染色体显性疾病，其特征是患者出现皮脂腺皮肤病变和内部肿瘤。已经证明，至少一部分MTS患者表现出遗传性非息肉病性结直肠癌的临床和分子遗传学特征，包括皮肤和内脏肿瘤中的微卫星不稳定性，这是由于DNA错配修复基因发生突变所致。我们在两名因皮肤肿瘤确诊的非相关MTS患者中发现了hMSH2基因的种系突变。我们的结果与已发表的MTS病例一起，支持了这样一种假说，即具有特征性皮肤病变的MTS局限于hMSH2基因突变。
