Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关实验视频

N Sreedevi1, N Swapna2, Santosh Maruthy1

  • 1Department of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, Karnataka, India.

Global medical genetics
|June 5, 2023
PubMed
概括
此摘要是机器生成的。

先天性糖基化乱 (CDG) 是一种罕见的遗传疾病. 整体外体序列测定证实PMM2基因变异在患有发育迟缓和神经症状的患者.

关键词:
在PMM2 -CDG中使用.印度南部的印度.脑性麻 脑性麻 是一种突变是一种突变.

相关实验视频

相关概念视频

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Development and Content Validation of Stuttering Screening Tool for Preschool Children.

Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP)·2026
Same author

Retraction: Molecular Pathology in Modern Medicine: A Review of Genomic, Proteomic, and Epigenetic Insights Into Disease Mechanisms.

Cureus·2026
Same author

Molecular Pathology in Modern Medicine: A Review of Genomic, Proteomic, and Epigenetic Insights Into Disease Mechanisms.

Cureus·2026
Same author

Perception of acoustically altered speech in adults who stutter: Preliminary findings using a Bayesian analysis approach.

Journal of fluency disorders·2025
Same author

Differential tolerance for the judgement of dysfluencies as stuttered speech in native and non-native speech-language pathologists.

Journal of fluency disorders·2025
Same author

Conflicting Evidence for a Motor Timing Theory of Stuttering: Choral Speech Changes the Rhythm of Both Neurotypical and Stuttering Talkers, but in Opposite Directions.

Journal of speech, language, and hearing research : JSLHR·2025
Same journal

Clinical and regional distribution of TTN variants in toe walking: A descriptive cohort study.

Global medical genetics·2026
Same journal

Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.

Global medical genetics·2026
Same journal

DNA methylation and exosomes in relation to type 2 diabetes in Black South Africans: A pilot study.

Global medical genetics·2026
Same journal

Research on the imbalance of metal homeostasis and ferroptosis mechanisms in neurodegenerative diseases.

Global medical genetics·2026
Same journal

No significant increase in thrombotic risk following the widespread adoption of TPO-RAs in ITP: A comparative study.

Global medical genetics·2026
Same journal

Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4.

Global medical genetics·2026
查看所有相关文章

科学领域:

  • 遗传学 遗传学 是一个
  • 生物化学 生物化学
  • 神经学 神经学

背景情况:

  • 先天性糖基化乱 (CDG) 是一种自身相对的衰退性疾病.
  • 关键症状包括低血压,发育迟缓和神经系统异常.
  • 早期诊断对于管理CDG复杂表现至关重要.

研究的目的:

  • 确定儿科患者发育迟缓和神经症状的遗传原因.
  • 为了证明整个外体序列测序 (WES) 在诊断罕见遗传疾病中的实用性.
  • 突出PMM2基因变异在CDG中的作用.

主要方法:

  • 在患者身上进行了全外体测序 (WES).
  • 基因分析发现了一个特定的PMM2基因变异 (c.710 C>T, p.T237M).
  • 分离分析证实了异合体父母的载体地位.

主要成果:

  • 该患者被诊断患有CDG,原因是鉴定了PMM2病原性变异.
  • 证实PMM2 c.710 C>T变体是患者病情的分子基础.
  • 发现了父母的血缘关系,这是衰退性疾病的常见因素.

结论:

  • WES是诊断发育障碍和神经疾病的强大工具.
  • 识别PMM2变体是诊断这种类型CDG的关键.
  • 使用WES的基因查可以帮助评估有不孕症或流产史的夫妇.