Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients.

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part A Pub Date : 2024-12-17 DOI:10.1002/ajmg.a.63967
Haifa El Mabrouk, Houcemeddine Othman, Lobna Boussofarra, Moez Gribaa, Ali Saad, Mohamed Denguezli, Cristina Has, Dorra H'mida
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Abstract

Epidermolysis Bullosa (EB) is a group of genetic skin disorders characterized by extreme skin fragility and blistering. In North African countries, including Tunisia, complex genetic and phenotypic diversity is entangled with a scarcity of scientific research on EB. This lack of knowledge presents a distinct challenge in terms of diagnostic accuracy and patient care. Our study cohort includes 10 Tunisian patients with EB whose genetic profiles were investigated by exome sequencing. In silico analysis was conducted to determine the functional impact of three novel variants. We revealed ten genetic variants, including three novel ones within the COL7A1 and DST genes. The in silico analysis shed light on the potential structural and functional implications of these novel variants. By establishing the correlation between clinical features and genetic alterations, we have expanded the existing database of disease-causing variants associated with EB in Northern Africa. Our study fills a critical knowledge gap in the North African context, where the scarcity of clinical database and genetic testing in addition to the genetic diversity necessitates comprehensive research. Our findings have the potential to improve diagnosis and management strategies for EB patients in low and middle-income countries across the region, especially through the integration of exome sequencing and in silico analysis.

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大疱性表皮松解症的遗传学研究:突尼斯患者新变异的鉴定。
大疱性表皮松解症(EB)是一组以皮肤极度脆弱和起泡为特征的遗传性皮肤病。在包括突尼斯在内的北非国家,复杂的遗传和表型多样性与EB科学研究的匮乏交织在一起。这种知识的缺乏在诊断准确性和患者护理方面提出了明显的挑战。我们的研究队列包括10名突尼斯EB患者,他们的基因谱通过外显子组测序进行了调查。进行了计算机分析,以确定三种新变体的功能影响。我们发现了10个遗传变异,包括COL7A1和DST基因中的3个新变异。计算机分析揭示了这些新变异的潜在结构和功能含义。通过建立临床特征与遗传改变之间的相关性,我们扩展了北非EB相关致病变异的现有数据库。我们的研究填补了北非背景下的一个关键知识空白,除了遗传多样性之外,临床数据库和基因检测的稀缺需要进行全面的研究。我们的研究结果有可能改善该地区低收入和中等收入国家EB患者的诊断和管理策略,特别是通过外显子组测序和计算机分析的整合。
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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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