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[某种基因]中的新型复合杂合突变导致复杂先天性心脏病。 (注:原文中“in”后面缺少具体基因名称)

Novel compound heterozygous mutation in causes complex congenital heart disease.

作者信息

Liu Xiao, Zhou Jing-Lin, Yang Cheng-Ying, Zhou Hai-Yan, He Wen-Bin, Yang Jing

机构信息

Department of Maternity, The First Hospital of Changsha, Changsha, Hunan 410005, P.R. China.

Department of Genetics, Hunan Guangxiu Hospital Affiliated with Hunan Normal University, Hunan Normal University Health Science Centre, Changsha, Hunan 410017, P.R. China.

出版信息

Mol Med Rep. 2025 Jul;32(1). doi: 10.3892/mmr.2025.13563. Epub 2025 May 16.

Abstract

Congenital heart disease (CHD) is the most common birth defect, affecting 2‑8% of newborns, with a marked impact on neonatal health. In the present study, the parents of a fetus diagnosed with CHD were recruited to investigate the genetic causes of this condition. Whole exome sequencing was conducted on tissue obtained from the fetus. A compound heterozygous mutation in the dynein axonemal heavy chain 9 () gene, comprising c.11176C>T (p.Arg3726Trp) and c.3743+1G>T, was identified. The c.11176C>T mutation has been previously reported as likely pathogenic, and c.3743+1G>T is a novel mutation. Sanger sequencing was employed for pedigree analysis. In addition, bioinformatics analyses were performed to predict the pathogenicity of the identified mutations, while and minigene analyses were conducted to examine the splicing patterns associated with the splicing mutation. Software predictions and minigene analysis revealed that the c.3743+1G>T mutation leads to abnormal splicing. According to the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines, the two identified mutations were classified as likely pathogenic. The present study identified the pathogenic variants in the affected family and expanded the mutation spectrum of the gene. It also provided a foundation for genetic counseling and reproductive intervention.

摘要

先天性心脏病(CHD)是最常见的出生缺陷,影响2%-8%的新生儿,对新生儿健康有显著影响。在本研究中,招募了一名被诊断患有CHD的胎儿的父母,以调查这种疾病的遗传原因。对从胎儿获取的组织进行了全外显子组测序。鉴定出动力蛋白轴丝重链9()基因中的一个复合杂合突变,包括c.11176C>T(p.Arg3726Trp)和c.3743+1G>T。c.11176C>T突变先前已被报道可能具有致病性,而c.3743+1G>T是一个新突变。采用桑格测序进行家系分析。此外,进行了生物信息学分析以预测所鉴定突变的致病性,同时进行了和小基因分析以检查与剪接突变相关的剪接模式。软件预测和小基因分析表明,c.3743+1G>T突变导致异常剪接。根据美国医学遗传学与基因组学学会/分子病理学协会的指南,所鉴定的两个突变被分类为可能具有致病性。本研究确定了受影响家族中的致病变异,扩大了基因的突变谱。它还为遗传咨询和生殖干预提供了基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11d7/12105450/8519f843be11/mmr-32-01-13563-g00.jpg

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