...
  • 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 >Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant
【24h】

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant

机译：CereBrofaciothoracic Dysplasia：四名新型患者复发性TMCO1病原变体

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

Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic dysplasia (CFTD; MIM #213980). The phenotype of this condition includes severe intellectual disability, as well as distinctive craniofacial features, including brachycephaly, synophrys, arched eyebrows, "cupid's bow" upper lip, and microdontia. In addition, nonspecific skeletal anomalies are common, including bifid ribs, scoliosis, and spinal fusion. Only 19 molecularly confirmed patients have been previously described. Here, we present four patients with CFTD, including three brothers from a Pakistani background and an additional unrelated white Scottish patient. All share the characteristic craniofacial appearance, with severe intellectual disability and skeletal abnormalities. We further define the phenotype with comparison to the published literature, and present images to define the dysmorphic features in a previously unreported ethnic group. All of our patient series are homozygous for the same c.292_293del (p.Ser98*) TMCO1 pathogenic variant, which has been previously reported only in an isolated Amish population. Thus we provide evidence that CFTD may be more common than previously thought. The patients presented here further delineate the phenotypic spectrum of CFTD and provide evidence for a recurrent pathogenic variant in TMCO1.
机译：先前已经证明了TMCO1基因中功能变体的双曲线丧失，导致脑内发育不良（CFTD; MIM＃213980）。这种情况的表型包括严重的智力残疾，以及独特的颅面特征，包括Brachycephaly，辅成，拱形眉毛，“丘比特弓”上唇和微型。此外，非特异性骨骼异常是常见的，包括双歧肋，脊柱侧凸和脊柱融合。之前已经描述了19例分子确认的患者。在这里，我们提出了四名CFTD患者，其中包括巴基斯坦背景的三兄弟以及另外一个无关的白色苏格兰病人。全部分享特征颅面外观，具有严重的智力残疾和骨骼异常。我们进一步与发表的文献相比定义了表型，并显示了图像以在先前未报告的族群中定义虚拟功能的图像。我们所有的患者系列都是同一C.292_293DEL（P.SER98 *）TMCO1致病变体的纯合子，此前仅在孤立的AMISH人口中报告。因此，我们提供了证据表明CFTD可能比以前认为的更常见。此处呈现的患者进一步描绘了CFTD的表型光谱，并提供了TMCO1中复发性致病变异的证据。

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