相关实验视频

Updated: Jun 3, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

鉴定新型CDH23异体变体,导致自体逆性非综合征性听力损失

Baoqiong Liao^1,2, Wuming Xie³, Rutian Liu¹

¹Ganzhou Maternal and Child Health Hospital, Ganzhou, Jiangxi, China.

Genes & genomics

|January 8, 2025

概括

在一个患有听力损失的孩子身上发现了CDH23基因的遗传变异. 这些新型突变,包括拼接部位变异,与自身逆性非综合征性听力损失 (NSHL) 有关.

科学领域:

遗传学是一个遗传学.
耳鼻喉科耳鼻喉科耳鼻喉科
分子生物学分子生物学

背景情况:

听力损失对孩子的发育有重大影响,遗传学占病例的50-60%.
自体逆性非综合征性听力损失 (NSHL) 是一种常见的先天性聋的形式.

研究的目的:

识别和描述导致NSHL的CDH23基因中的新型变异.
为了确定CDH23.23中c.2398-6G>A拼接位变异的致病潜力.

主要方法:

进行了临床评估和全外体序列 (WES) 测序.
进行了体外剪接试验,以评估变体的致病性.

主要成果:

在CDH23中发现了两种新型化合物异构型变体:c.2398-6G>A和c.6068C>A (p. Ser2023Ter).
这种c.2398-6G>A变异导致异常拼接,导致移和截断的CDH23蛋白.

结论:

在CDH23中出现的新型化合物异构突变与自身逆性NSHL有关.
这项研究扩展了CDH23中已知的突变,并增强了对其拼接位变异在听力损失中的理解.

关键词:

在CDH2323中.自体逆行性自体逆行性非正规的拼接部位变异.无综合征性听力损失是什么?整体外基因组测序的测序

更多相关视频

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

相关概念视频

Genetic Lingo

Genetic Lingo

Pedigree Analysis

Pedigree Analysis

Hearing

Hearing

When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...