相关实验视频

Updated: Jan 6, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

与AP4S1基因相关的遗传性性:一系列病例突出了诊断陷和表型变异

Çağatay Günay¹, Hande Gazeteci Tekin²

¹Department of Pediatric Neurology, Siirt Training and Research Hospital, Siirt, Turkey.

Molecular syndromology

|October 8, 2025

概括

与AP4S1基因变异相关的遗传性性 (HSP) 呈现出性和发育迟缓. 早期的错误诊断可能会发生,这凸显了复杂的神经病例中需要进行遗传检测的必要性.

科学领域:

神经遗传学神经遗传学
分子医学是分子医学.
临床神经学临床神经学

背景情况:

复杂的遗传性性 (HSP) 是一种具有多种症状的渐进性神经疾病.
包括AP4S1在内的适应蛋白复合-4 (AP4) 基因中的致病变体与HSPs的一个子集有关.

研究的目的:

描述三个兄弟姐妹的复杂HSP由AP4S1基因变异引起的.
突出AP4S1相关的HSP的临床特征,诊断挑战和潜在的误诊.

主要方法:

三个受影响的兄弟姐妹的临床案例研究.
基因分析包括拷贝数变异 (CNV) 分析.
对临床和神经成像发现的审查.

主要成果:

在所有三个兄弟姐妹中都发现了AP4S1基因中的致病性同卵性缺失.
临床特征包括渐进的性,面异常和神经发育迟缓.
在某些情况下,误诊为脑导致了不必要的手术干预.

结论:

在患有性,,面特征和神经成像异常的患者的差异诊断中,应考虑与AP4S1相关的HSP.
提高认识和进一步的研究对于准确诊断和管理AP4S1相关的HSP至关重要.

关键词:

在AP4S1中使用AP4S1.适应器蛋白质复合体适应器蛋白质复合体诊断的挑战是诊断的挑战.遗传性性残残疾人遗传性残疾人表型变异性的变化.

更多相关视频

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Identification and Classification of Position-specific GABA_A Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

相关概念视频

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Pedigree Analysis

Pedigree Analysis