由于新型双性PERCC1变异的先天性腹/肠病 - - 一个基于病例的审查和变异分析
Aaqib Zaffar Banday1, Ishaq Malik2, Anit Kaur3
1Department of Pediatrics, Government Medical College Srinagar, Kashmir, India. maaqibzb@gmail.com.
Journal of human genetics
|January 23, 2026
概括
新发现的PERCC1基因变异在婴儿中引起先天性腹/肠病. 整体外体测序 (WES) 有助于诊断这种罕见的遗传疾病,通常需要亲肠营养 (PN) 支持.
科学领域:
- 遗传学 是一个遗传学.
- 儿科胃肠病学 儿科胃肠病学
- 分子生物学分子生物学
背景情况:
- 先天性腹/肠病是一种罕见的疾病.
- 在PERCC1基因中遗传的双质缺陷导致这种情况.
- 在此之前,很少有人报告PERCC1变异.
研究的目的:
- 在患有先天性腹/肠道病变的患者中识别新的PERCC1变异.
- 描述PERCC1相关肠道病变的临床表现和遗传基础.
- 突出整体外体序列测序 (WES) 在诊断这种疾病中的实用性.
主要方法:
- 整体外体序列测序 (WES) 用于识别一种新的PERCC1变种.
- 进行了文献审查,以确定其他患有PERCC1变异的患者.
- 分析了受影响患者的临床数据.
主要成果:
- 发现了一种新的PERCC1停止增益变体 (c.188C>G,p.Ser63*).
- 另外16名患者被确定患有PERCC1缺陷 (13个删除,3个同卵性停止增益变体).
- 腹发病的平均年龄为9.5天,往往需要通过肠道营养 (PN).
结论:
- PERCC1变异是先天性腹/肠道病变的重要原因.
- WES是诊断PERCC1相关疾病的有效工具.
- 早期诊断和管理,包括PN,对于受影响的婴儿至关重要.
相关概念视频
Histone Variants at the Centromere
5.0K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.0K
Review and Preview
8.3K
In statistics, several tools are used to interpret the data. Measures of central tendency represent the characteristics of the data, such as mean, median, and mode. Additionally, measures of variance like standard deviation and range are used to find the spread of data from the mean. Relative standing measures the distance between data locations. Commonly used measures of relative standings are percentile, z score, and quartiles.
Percentiles are a type of fractile that partition data into...
Percentiles are a type of fractile that partition data into...
8.3K
Review and Preview
10.9K
Data are individual items of information obtained from a population or sample. Data may be classified as qualitative (categorical), quantitative continuous, or quantitative discrete. Because it is not practical to measure the entire population in a study, researchers use samples to represent the population. A random sample is a representative group from the population chosen by using a method that gives each individual in the population an equal chance of being included in the sample. Random...
10.9K
Drugs for Treatment of Diarrhea-Predominant IBS
658
Diarrhea-predominant irritable bowel syndrome (IBS-D) is a subtype of IBS characterized primarily by frequent, loose, or watery stools, abdominal pain, and abdominal discomfort. Therapeutic approaches to managing IBS-D include dietary changes, stress management techniques, and pharmaceutical interventions.
Two specific drugs used in the treatment are alosetron (Lotronex) and eluxadoline (Viberzi). Alosetron, a 5-HT3 antagonist, works by slowing the movement of stools in the gut, reducing bowel...
Two specific drugs used in the treatment are alosetron (Lotronex) and eluxadoline (Viberzi). Alosetron, a 5-HT3 antagonist, works by slowing the movement of stools in the gut, reducing bowel...
658
Classification of Titrimetric Analysis Based on Reaction Types
1.5K
Titrimetric analysis in solution chemistry involves measuring the volume of solutions and is often called volumetric analysis. The standard solution of known concentration in the burette is called the titrant, whereas the solution of unknown concentration in the flask is called the analyte, or titrand. Titrimetric analyses can be classified into four types based on the reactions between the titrant and analyte.
Titrations between an acid and a base lead to neutralization reactions that form...
Titrations between an acid and a base lead to neutralization reactions that form...
1.5K
Qualitative Analysis
23.8K
For solutions containing mixtures of different cations, the identity of each cation can be determined by qualitative analysis. This technique involves a series of selective precipitations with different chemical reagents, each reaction producing a characteristic precipitate for a specific group of cations. Metal ions within a group are further separated by varying the pH, heating the mixture to redissolve a precipitate, or adding other reagents to form complex ions.
For instance, group IV...
For instance, group IV...
23.8K


