初级卡尼丁缺乏的新生儿查:临床和分子遗传特征
Haili Hu1,2, Qingqing Ma3, Yan Wang3
1Anhui Women and Children's Medical Center, Hefei, 230001, Anhui, China. hhl919@aliyun.com.
Italian journal of pediatrics
|March 12, 2025
概括
这项研究对897050名新生儿进行了初级卡尼缺乏症 (PCD) 的查,确定了46例病例. 基因分析揭示了四种新的SLC22A5基因突变,扩大了这种脂肪酸氧化障碍的已知谱.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 新生儿查 新生儿查
背景情况:
- 原发性肉氨酸缺乏症 (PCD) 是一种罕见的脂肪酸氧化过程的自体逆向性疾病.
- 它是由SLC22A5基因的变异引起的,其流行率和突变谱在全球范围内有所不同.
- 这项研究侧重于中国合肥市PCD的临床和遗传特征.
研究的目的:
- 分析原发性肉素缺乏症 (PCD) 患者的临床和遗传特征.
- 为了识别新生儿及其母亲SLC22A5基因中的突变.
- 为了确定中国合肥人口中PCD的发病率.
主要方法:
- 新生儿查使用双重质谱 (MS/MS) 在干血斑点上.
- 召回新生儿和低自由卡尼丁 (C0) 水平的母亲进行重新查.
- 在确诊病例中进行基因突变分析的下一代测序.
主要成果:
- 在897050名接受查的新生儿中,发现PCD的发病率为1在19501,诊断出46例病例.
- 34名母亲也被确定为PCD患者.
- 确定了四种新的SLC22A5变异,以及诸如c.1400C>G (45.88%新生儿) 等常见突变.
- 在患有SLC22A5截断突变的患者中观察到较低的C0水平.
结论:
- 双重质谱 (MS/MS) 与遗传检测相结合,提高了PCD诊断的准确性.
- 该研究发现了四种新型突变,扩大了SLC22A5基因已知的变异谱.
- 这项研究提供了中国人群中PCD的有价值数据.
更多相关视频
05:32High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
4.2K
07:08A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status
Published on: October 20, 2016
7.7K
相关概念视频
01:20Inborn Errors of Metabolism
121
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
121
01:35Pedigree Analysis
83.7K
Overview
83.7K
01:22Lysosomal Hydrolases
3.7K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.7K