婴儿和儿童突然意外死亡的遗传评估
A M Pries1, S N van der Crabben2, H A Moll1
1Department of General Paediatrics, Erasmus University Medical Center Sophia Children's Hospital, Dr. Molenwaterplein, 3015 GD, Rotterdam, the Netherlands.
European journal of pediatrics
|October 9, 2025
概括
婴儿和儿童突然意外死亡 (SUDI) 和儿童突然无法解释死亡 (SUDC) 病例中的基因检测具有很高的诊断收益率. 尤其是在例行尸检未能找到病因,从而有助于家庭健康决策时,情况更为如此.
科学领域:
- 法医病理学 法医病理学
- 临床遗传学 临床遗传学
- 儿科病理学 儿科病理学
背景情况:
- 婴儿和儿童突然意外死亡 (SUDI) 和儿童突然无法解释的死亡 (SUDC) 可能具有遗传起源.
- 以前的研究表明,心脏和非心脏遗传因素都会导致儿童突然死亡.
- 鉴定遗传原因为家庭监测,预防措施和生殖选择提供了关键信息.
研究的目的:
- 评估基因检测在荷兰婴儿和儿童突然意外死亡死后评估 (PESUDIC) 程序调查的病例中的诊断产量.
- 为SUDI和SUDC病例的遗传评估制定建议.
- 确定基因变异对儿科突发死亡的死亡原因的贡献.
主要方法:
- 一项全国性回顾性研究分析了2016年至2022年期间接受PESUDIC程序和基因检测的儿童的数据.
- 根据标准PESUDIC调查的发现和并发症的存在,对病例进行了分类.
- 收集的数据包括病史,死后结果和遗传测试结果,测试以差异诊断为指导.
主要成果:
- 对102名儿童进行了基因检测 (平均年龄为1.1岁,52%为男性).
- 可能致病 (LP/P) 变异的患病率在具有贡献标准发现的病例中为20%,在具有共发病的病例中为27%,在没有标准发现或共发病的病例中为28%.
- 在20例LP/P变异病例中的13例中,这些病例被认为有助于死亡原因,涉及心脏 (8%) 和非心脏 (5%) 途径.
结论:
- 基因检测在SUDI和SUDC病例中显示出高的诊断收益率,特别是当标准的尸检没有确定性时.
- 对于儿童意外死亡,全面的遗传评估是有价值的.
- 这些发现支持将包括心脏和非心脏通路在内的广泛遗传测试纳入死后调查.
更多相关视频
08:22A 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
9.0K
06:46Implantation of Electroencephalogram and Electrocardiogram Telemetry Devices in Neonatal Rabbit Kits
Published on: February 28, 2025
749
相关概念视频
01:59CRISPR
Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced Short...
02:59Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
02:57Meiosis vs. Mitosis
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:07Teratogenicity
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...