• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American journal of medical genetics, Part A >Clinical and molecular analysis in Papillon–Lefèvre syndrome
【24h】

Clinical and molecular analysis in Papillon–Lefèvre syndrome

机译：Papillon-Lefèvre综合征的临床和分子分子分析

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Abstract Papillon–Lefèvre syndrome (PLS; MIM#245000) is a rare recessive autosomal disorder characterized by palmar and plantar hyperkeratosis, and aggressively progressing periodontitis leading to premature loss of deciduous and permanent teeth. PLS is caused by loss‐of‐function mutations in the CTSC gene, which encodes cathepsin C. PLS clinical expressivity is highly variable and no consistent genotype–phenotype correlation has been demonstrated yet. Here we report the clinical and genetic features of five PLS patients presenting a severe periodontal breakdown in primary and permanent dentition, hyperkeratosis over palms and soles, and recurrent sinusitis and/or tonsillitis. Mutation analysis revealed two novel homozygous recessive mutations (c.947TC and c.1010GC) and one previous described homozygous recessive mutation (c.901GA), with parents carrying them in heterozygous, in three families (four patients). The fourth family presented with the CTSC c.628CT mutation in heterozygous, which was inherited maternally. Patient carrying the CTSC c.628CT mutation featured classical PLS phenotype, but no PLS clinical characteristics were found in his carrier mother. All mutations were found to affect directly (c.901GA, c.947TC, and c.1010GC) or indirectly (c.628CT, which induces a premature termination) the heavy chain of the cathepsin C, the region responsible for activation of the lysosomal protease. Together, these findings indicate that both homozygous and heterozygous mutations in the cathepsin C heavy chain domain may lead to classical PLS phenotype, suggesting roles for epistasis or gene–environment interactions on determination of PLS phenotypes.
机译：摘要Papillon-Lefèvre综合征（PLS; MIM＃245000）是一种罕见的隐性常染色体障碍，其特征是棕榈座和跖晕症，并积极进入牙周炎，导致过早造成落叶和恒牙。 PLS是由CTSC基因中的功能突变损失引起的，其编码组织蛋白酶C. PLS临床表征是高度可变的，并且尚未证明一致的基因型表型相关性。在这里，我们报告了五种PLS患者的临床和遗传特征，其在牙龈和永久性牙列，肺泡和鞋底上呈现严重的牙周衰退，高表情，以及复发性鼻窦炎和/或扁桃体炎。突变分析揭示了两种新型纯合隐性突变（C.947T＆GT; C和C.1010G＆GT; C）和一个先前描述的纯合隐性突变（C.901G＆GT; A），父母在三个家庭中携带杂合中的杂合（四名患者） 。第四个家庭呈现CTSC C.628C＆ T突变在杂合中，其是遗传物质。患者携带CTSC C.628C＆GT; T突变特征在于古典PLS表型，但在他的载体母亲中没有发现PLS临床特征。发现所有突变直接影响（C.901g＆ a，c.947t＆ c，和c.1010g＆ c）或间接（c.628c＆ t，它诱导过早终止）组织蛋白酶c的重链，负责激活溶酶体蛋白酶的区域。这些发现在一起表明，组织蛋白酶C重链结构域的纯合和杂合突变可以导致经典的PLS表型，表明用于超越或基因 - 环境相互作用对PLS表型的相互作用。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号