相关实验视频

Updated: Jun 29, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

在携带ABCA12突变的患者中,红色皮质变异性类似的表型

Alrun Hotz^1,2,3, Regina Fölster-Holst⁴, Vinzenz Oji^1,5

¹European Reference Networks (ERN Skin), 75015 Paris, France.

|March 28, 2024

概括

红色皮质皮质变异性 (EKV) 可能是由于ABCA12突变引起的自体逆性先天性缺血症 (ARCI) 引起的. 这一发现表明ARCI是EKV的关键差异诊断.

科学领域:

遗传学遗传学是一个
皮肤病学皮肤病学
罕见疾病罕见疾病

背景情况:

红色皮质皮质变异性 (EKV) 是一种罕见的基因皮质病,呈现为红血斑块和超皮质斑块.
EKV通常是自体主导的,已知原因是连xin基因 (GJB3,GJB4,GJA1) 和其他基因 (KDSR,KRT83,TRPM4) 的突变.
EKV表型可以与其他基因皮肤病 (如尼瑟顿综合征) 重叠,使诊断复杂化.

研究的目的:

在以前未经分类的患者中调查EKV表型的遗传基础.
为了确定自体逆性先天性 ichthyosis (ARCI) 是否可以呈现EKV表型.
为了扩大对Erythrokeratodermia variabilis的差异诊断.

主要方法:

临床评估七名患有EKV表型的患者.
分子遗传分析以确定致病突变.
根据遗传发现对患者进行分类.

主要成果:

七名患者表现出明显的EKV表型.
发现所有7名患者在ABCA12基因中都有双基突变.
这些遗传发现导致这些患者被归类为ARCI组.

结论:

自体逆性先天性缺血症 (ARCI) 应考虑在Erythrokeratodermia variabilis (EKV) 的差分诊断中.
在ABCA12中发生的突变可以表现为EKV表型,扩大已知的ARCI临床谱.
这项研究强调了对具有重叠表型的罕见基因皮肤病进行全面遗传检测的重要性.

关键词:

在ABCA12中,ABCA12是ABCA12中的一个.自体逆性先天性缺血症 (ARCI)红色皮质皮质变异性 (erythrokeratodermia variabilis) 是一种可变性.

更多相关视频

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

相关概念视频

Pedigree Analysis

Pedigree Analysis

Epistasis

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

Genetic Lingo

Genetic Lingo

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,...

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.