Itoh T, Cleaver J E, Yamaizumi M
Institute of Molecular Embryology and Genetics, Kumamoto University School of Medicine, Japan.
Hum Genet. 1996 Feb;97(2):176-9. doi: 10.1007/BF02265261.
Two siblings have been reported whose clinical manifestations (cutaneous photosensitivity and central nervous system dysfunction) are strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum (XP), a severe form of XP. Fibroblasts from the siblings showed UV sensitivity, a failure of recovery of RNA synthesis (RRS) after UV-irradiation, and a normal level of unscheduled DNA synthesis (UDS), which were, unexpectedly, the biochemical characteristics usually associated with Cockayne syndrome (CS). However, no complementation group assignment in these cells has yet been performed. We here report that these patients can be assigned to CS complementation group B (CSB) by cell fusion complementation analysis. To our knowledge, these are the first patients with defects in the CSB gene to be associated with an XP phenotype. The results imply that the gene product from the CSB gene must interact with the gene products involved in excision repair and associated with XP.
据报道，有两名兄弟姐妹，其临床表现（皮肤光敏性和中枢神经系统功能障碍）强烈让人联想到着色性干皮病（XP）的一种严重形式——DeSanctis-Cacchione综合征（DCS）变体。这两名兄弟姐妹的成纤维细胞表现出紫外线敏感性、紫外线照射后RNA合成恢复（RRS）失败以及正常水平的非预定DNA合成（UDS），出人意料的是，这些是通常与科凯恩综合征（CS）相关的生化特征。然而，尚未对这些细胞进行互补组分配。我们在此报告，通过细胞融合互补分析，这些患者可被归为CS互补组B（CSB）。据我们所知，这些是首批CSB基因存在缺陷且与XP表型相关的患者。结果表明，CSB基因的基因产物必定与参与切除修复且与XP相关的基因产物相互作用。
