染色体11p15.4的新突变导致沙特儿童患有A型尼曼-皮克病
Adel M Al Shahrani1, Walaa Asiri2, Saad Ali M Alqarni3
1Department of Pediatric Gastroenterology, Abha Maternity and Children Hospital, Abha, SAU.
Cureus
|April 10, 2024
概括
尼曼-皮克病 (NPD) 是一组遗传的溶酶体储存障碍. 基因检测证实了NPD类型A在18个月的孩子中,增长延迟和神经问题,由SMPD1基因突变引起.
科学领域:
- 遗传学 遗传学 是一个
- 生物化学 生物化学
- 儿科 儿科 儿科
背景情况:
- 尼曼-皮克病 (NPD) 包含至少三种自体逆性溶酶体储存疾病.
- 酸胺基酶 (ASM) 缺乏导致NPD类型A和B,影响胺基蛋白的水解.
- 溶酶体储存障碍带来了诊断挑战,特别是在幼儿时期.
研究的目的:
- 介绍一个婴儿中A型尼曼-皮克病的案例研究.
- 要突出诊断过程和NPD类型A的遗传确认.
- 描述儿科NPD病例的临床表现和初始管理.
主要方法:
- 临床表现分析,包括腹部张张,器官壮大和神经缺陷.
- 诊断评估包括脑成像和实验室测试.
- 基因检查以确定基因二酶-1 (SMPD1) 基因中的突变.
主要成果:
- 一名18个月大的患者表现出生长延迟,有机巨和神经系统缺陷.
- 最初的脑部成像和实验室检测结果没有确定性.
- 基因分析证实了因SMPD1基因在染色体11p15.4.4上的突变导致的A型尼曼-皮克病.
- 在没有特殊治疗的随访期间,患者患上呼吸道感染.
结论:
- 尼曼-皮克病A型的诊断需要全面的评估,包括遗传检测.
- 早期识别NPD对于潜在的干预和管理至关重要.
- 这一案例强调了基因分析在诊断罕见儿科疾病中的重要性.
更多相关视频
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
25.8K
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
8.6K
相关概念视频
Translation
141.9K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
141.9K
Alternative RNA Splicing
21.1K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.1K
Single Nucleotide Polymorphisms-SNPs
15.0K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.0K
