Whole exome sequencing identified a novel homozygous ARV1 mutation in an Iranian family with developmental and epileptic encephalopathy-38

IF 0.8 Q4 GENETICS & HEREDITY

Meta Gene Pub Date : 2021-12-01 DOI:10.1016/j.mgene.2021.100953

Emran Esmaeilzadeh , Sahar Bayat , Reza Mirfakhraie , Milad Gholami

引用次数: 3

Abstract

Developmental and epileptic encephalopathy-38 (DEE38) is an inherited neurodegenerative disorder described by the onset of various type of seizures usually between around 4 and 7 months of age. Mutations in the ARV1 gene have recently been described in association with DEE38. Extracted genomic DNA from blood sample was used to perform whole exome sequencing in an affected member of an Iranian family with Developmental and Epileptic Encephalopathy type 38. The mutational screening revealed a novel homozygote ARV1 gene mutation c.593_594delTT (p.Ile198MetfsTer4) in the proband. We identified a novel homozygous deletion in the ARV1 that associates with the Developmental and epileptic encephalopathy-38.

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全外显子组测序在一个患有发育性和癫痫性脑病的伊朗家庭中发现了一种新的纯合子ARV1突变-38

发育性和癫痫性脑病-38 (DEE38)是一种遗传性神经退行性疾病，通常在4至7个月大时出现各种类型的癫痫发作。ARV1基因的突变最近被描述为与DEE38相关。从血液样本中提取的基因组DNA用于对患有38型发育性和癫痫性脑病的伊朗家庭的受影响成员进行全外显子组测序。突变筛查显示，该先显子存在一种新的纯合子ARV1基因突变c.593_594delTT (p.i ile198metfster4)。我们在ARV1中发现了一种与发育性和癫痫性脑病相关的新型纯合缺失-38。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.