• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

患有COL2A1突变胎儿的持续性脊索

Persistent Notochord in a Fetus with COL2A1 Mutation.

作者信息

Codsi Elisabeth, Brost Brian C, Faksh Arij, Volk Amber K, Borowski Kristi S

机构信息

Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

Wake Forest School of Medicine, 1 Medical Center Boulevard, Winston Salem, NC 2715, USA.

出版信息

Case Rep Obstet Gynecol. 2015;2015:935204. doi: 10.1155/2015/935204. Epub 2015 Sep 8.

DOI:10.1155/2015/935204
PMID:26435866
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4578830/
Abstract

Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with a COL2A1 mutation. To our knowledge, this represents the first case of a persistent notochord associated with a COL2A1 mutation in humans. In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.

摘要

在一名患有COL2A1突变的胎儿中，孕中期超声检查发现了多种异常，包括短肢畸形、椎骨矿化不良和持续存在的脊索。据我们所知，这是人类中首例与COL2A1突变相关的持续脊索病例。在本病例报告中，我们描述了超声和尸检结果，并回顾了与持续脊索相关的发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd13/4578830/8933fd09016d/CRIOG2015-935204.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd13/4578830/1f9d00d756fe/CRIOG2015-935204.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd13/4578830/46506a15bb68/CRIOG2015-935204.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd13/4578830/8933fd09016d/CRIOG2015-935204.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd13/4578830/1f9d00d756fe/CRIOG2015-935204.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd13/4578830/46506a15bb68/CRIOG2015-935204.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd13/4578830/8933fd09016d/CRIOG2015-935204.003.jpg

相似文献

1
Persistent Notochord in a Fetus with COL2A1 Mutation.患有COL2A1突变胎儿的持续性脊索
Case Rep Obstet Gynecol. 2015;2015:935204. doi: 10.1155/2015/935204. Epub 2015 Sep 8.
2
Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.
Cytogenet Genome Res. 2015;145(1):25-8. doi: 10.1159/000381169. Epub 2015 Mar 25.
3
Expression of a type II collagen gene in the zebrafish embryonic axis.斑马鱼胚胎轴中II型胶原蛋白基因的表达。
Dev Dyn. 1995 Jul;203(3):363-76. doi: 10.1002/aja.1002030308.
4
Collagen II is essential for the removal of the notochord and the formation of intervertebral discs.II型胶原蛋白对于脊索的清除和椎间盘的形成至关重要。
J Cell Biol. 1998 Nov 30;143(5):1399-412. doi: 10.1083/jcb.143.5.1399.
5
The early origin of vertebral anomalies, as illustrated by a 'butterfly vertebra'.以“蝴蝶椎”为例说明椎体异常的早期起源。
J Anat. 1986 Dec;149:157-69.
6
Split notochord syndrome variant: prenatal findings and neonatal management.脊索分裂综合征变异型：产前检查结果及新生儿管理
Prenat Diagn. 2005 Jan;25(1):23-7. doi: 10.1002/pd.1076.
7
Non-visualization of choroid plexus of fourth ventricle as first-trimester predictor of posterior fossa anomalies and chromosomal defects.第四脑室脉络丛不显影作为早孕期后颅窝畸形和染色体缺陷的预测指标。
Ultrasound Obstet Gynecol. 2018 Feb;51(2):199-207. doi: 10.1002/uog.17445. Epub 2018 Jan 2.
8
Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel Pathogenic Variant.通过对具有新型致病变异的孕中期胎儿进行尸检做出经典科妮莉亚·德朗热综合征的临床诊断
Pediatr Dev Pathol. 2019 Oct;22(5):475-479. doi: 10.1177/1093526619834429. Epub 2019 Mar 19.
9
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.一个患有骨骼发育不良和不同干骺端改变的中国家系中COL2A1基因复发性c.G1636A（p.G546S）突变：病例报告
BMC Pediatr. 2017 Jul 24;17(1):175. doi: 10.1186/s12887-017-0930-9.
10
Identification of a new mineralized tissue in the notochord of reared Siberian sturgeon (Acipenser baerii).在养殖的西伯利亚鲟（Acipenser baerii）脊索中鉴定出一种新的矿化组织。
J Morphol. 2017 Nov;278(11):1586-1597. doi: 10.1002/jmor.20734. Epub 2017 Jul 25.

引用本文的文献

1
and models define a molecular signature reference for human embryonic notochordal cells.并且模型定义了人类胚胎脊索细胞的分子特征参考。
iScience. 2024 Jan 26;27(2):109018. doi: 10.1016/j.isci.2024.109018. eCollection 2024 Feb 16.
2
Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene.T（短尾）基因突变导致的持续性脊索和骶骨缺失的产前证据。
Case Rep Obstet Gynecol. 2016;2016:7625341. doi: 10.1155/2016/7625341. Epub 2016 Dec 26.

本文引用的文献

1
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.T（短尾）基因的突变会导致一种新型综合征，其特征包括骶骨发育不全、椎体骨化异常以及持续存在的脊索管。
J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19.
2
Nosology and classification of genetic skeletal disorders: 2010 revision.遗传骨骼疾病的命名法和分类：2010 修订版。
Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15.
3
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.
胎儿骨骼发育异常的产前诊断指南。
Genet Med. 2009 Feb;11(2):127-33. doi: 10.1097/GIM.0b013e3181971ccb.
4
The phenotypic spectrum of COL2A1 mutations.COL2A1 基因突变的表型谱。
Hum Mutat. 2005 Jul;26(1):36-43. doi: 10.1002/humu.20179.
5
Structure and function of the notochord: an essential organ for chordate development.脊索的结构与功能：一种对脊索动物发育至关重要的器官。
Development. 2005 Jun;132(11):2503-12. doi: 10.1242/dev.01812.
6
Sequence analysis of zebrafish chondromodulin-1 and expression profile in the notochord and chondrogenic regions during cartilage morphogenesis.
Mech Dev. 2001 Jul;105(1-2):157-62. doi: 10.1016/s0925-4773(01)00417-8.
7
Spatio-temporal distribution of chondromodulin-I mRNA in the chicken embryo: expression during cartilage development and formation of the heart and eye.软骨调节素-I mRNA在鸡胚中的时空分布：在软骨发育以及心脏和眼睛形成过程中的表达
Dev Dyn. 1999 Nov;216(3):233-43. doi: 10.1002/(SICI)1097-0177(199911)216:3<233::AID-DVDY2>3.0.CO;2-G.
8
Collagen II is essential for the removal of the notochord and the formation of intervertebral discs.II型胶原蛋白对于脊索的清除和椎间盘的形成至关重要。
J Cell Biol. 1998 Nov 30;143(5):1399-412. doi: 10.1083/jcb.143.5.1399.
9
Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome.疑似骨骼发育不良：股骨长度与腹围比值可用于超声预测胎儿结局。
Am J Obstet Gynecol. 1997 Oct;177(4):864-9. doi: 10.1016/s0002-9378(97)70284-9.
10
Parallel expression of Sox9 and Col2a1 in cells undergoing chondrogenesis.Sox9和Col2a1在经历软骨形成的细胞中的平行表达。
Dev Dyn. 1997 Aug;209(4):377-86. doi: 10.1002/(SICI)1097-0177(199708)209:4<377::AID-AJA5>3.0.CO;2-F.