• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Balkan journal of medical genetics: BJMG >Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene
【24h】

Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene

机译：在COL2A1基因上具有新出生的新生儿中的衔接性2型

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings. Achondrogenesis Type 2 is a lethal skeletal dysplasia that is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an enlarged abdomen that may accompanied by polydramnios and hydrops. This study contributes to the literature by presenting a patient who was admitted to the Level ?????? Neonatal Intensive Care Unit (NICU), Bursa, Turkey), with extremely short extremities, a small chest, abdominal distention and respiratory distress, who was diagnosed with ACG2. On the COL2A1 gene, genetic analysis with next generation sequencing (NGS), was revealed to have a heterozygous missense variation, c.2546GA, p.Gly849Asp mutation, which is a different genetic variant that has not been previously described in the literature.
机译：AchondRogenesis是一组罕见的，致命的疾病，在每40,000-60,000次新生儿中大约一次发生。在三组中分为三组，作为致病型1A（休斯顿 - 哈里斯型或AC-G1A），取决于临床和患者，AnhondRogense 1B（Harenti-Fraccaro型或ACG1B）和AchondRogensies型2（Langer-Saldino型或ACG2），取决于临床和放射发现。 AchondRogenesis 2型是一种致命的骨骼发育不良，其通常具有短臂和腿的特征，小胸部，带有短的肋骨，肺发育不全，突出的额头，小下巴，并且可以伴有聚律无源和水合物的扩大腹部。本研究通过呈现被录取的水平的患者有助于文献??????新生儿重症监护单位（NICU），Bursa，土耳其），极短的肢体，小胸部，腹胀和呼吸窘迫，被诊断为ACG2。在COL2A1基因中，揭示了下一代测序（NGS）的遗传分析，具有杂合的畸形变异，C.2546G> A，P.Gly849AsP突变，其是尚未在文献中描述的不同遗传变体。

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