Exome sequencing revealed a novel deletion in the ERCC8 ERCC8 gene in an Iranian family with Cockayne syndrome

Mohammadi‐asl J.; Hajjari M.; Tahmasebi Birgani M.; Riahi K.; Nasiri H.; Kollaee A.

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Exome sequencing revealed a novel deletion in the ERCC8 ERCC8 gene in an Iranian family with Cockayne syndrome

机译：exome测序揭示了在伊朗家族中的Ercc8 Ercc8基因中的一种新型缺失，伊朗家族与Cockayne综合征

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Abstract Cockayne syndrome (CS) is one the rare DNA‐repair deficiency disorders with autosomal recessive inheritance. Failure to thrive and microcephaly are the major criteria of diagnosis. Owing to genetic heterogeneity of CS, whole exome sequencing is promising way to determine the genetic basis of the disease. Here, we present c.1053delT in ERCC8 gene in an Iranian family with symptom of CS using whole exome sequencing. The deletion was novel and was not previously reported elsewhere.

机译：摘要Cockayne综合征（CS）是罕见的DNA修复缺陷障碍，具有常染色体隐性遗传。未能茁壮成长和微头是诊断的主要标准。由于Cs的遗传异质性，全面的exome测序是确定疾病的遗传基础的有希望的方法。在这里，我们在伊朗家庭中呈现C.1053Delt，使用全外壳测序在伊朗家族中患有CS的症状。删除是新颖的，此前没有在其他地方报告。

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来源
《Annals of Human Genetics》 |2018年第5期|共5页
作者
Mohammadi‐asl J.; Hajjari M.; Tahmasebi Birgani M.; Riahi K.; Nasiri H.; Kollaee A.;
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作者单位

Department of Medical Genetics School of MedicineAhvaz Jundishapur University of Medical;

Department of Genetics Faculty of ScienceShahid Chamran University of AhvazAhvaz Iran;

Department of Medical Genetics School of MedicineAhvaz Jundishapur University of Medical;

Research Center of Thalasemia and HemoglobinopathyAhvaz Jundishapur university of Medical;

Departement of Medical GeneticsNika center of Health promotion and prevention MedicineTehran Iran;

Noor Genetics LabAhvaz Iran;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
Cockayne syndrome; Deletion; DNA‐repair deficiency disorders; ERCC8; Whole exome sequencing;

机译：Cockayne综合征;删除;DNA修复缺乏症;ERCC8;整体exome测序;

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专利

1. Exome sequencing revealed a novel deletion in the ERCC8 ERCC8 gene in an Iranian family with Cockayne syndrome [J] . Mohammadi‐asl J., Hajjari M., Tahmasebi Birgani M., Annals of Human Genetics . 2018,第5期

机译：exome测序揭示了在伊朗家族中的Ercc8 Ercc8基因中的一种新型缺失，伊朗家族与Cockayne综合征
2. Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia [J] . Zhang Danyan, Dai Limeng, Zhou Zhenhua, Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2019,第期

机译：纯合理测绘和整个外壳测序揭示了一个具有独特的小脑共济失调的中国近邻家庭中的新型ercc8突变
3. Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability [J] . Documenta Ophthalmologica: Advances in Ophthalmology . 2020,第1期

机译：在ERCC8基因中具有新的致病性突变的Cockayne综合征的家庭中的多模式成像，以及显着的表型变异性
4. Whole Exome Sequencing Approach to Identify Genetic Variants Causing Sudden Unexplained Death Syndrome [C] . Seok-Hwee Koo, Paul Chui, Chee Seng Ku, Molecular Medicine TRI-CON. . 2014

机译：识别遗传变异突然未解释的死亡综合征的整体exome测序方法
5. Chromosomal mapping of genes encoding human Pur-alpha and Pur-beta: Independent and simultaneous deletions in myelodysplastic syndromes and acute myelogenous leukemia. [D] . Lezon-Geyda, Kimberly Ann. 2001

机译：编码人Pur-alpha和Pur-beta的基因的染色体作图：骨髓增生异常综合症和急性骨髓性白血病的独立和同时缺失。
6. Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome [O] . Audrey Schalk, Géraldine Greff, Nathalie Drouot, 2018

机译：与严重但长期存活的科卡因综合征相关的ERCC8基因剪接调控元件的深度内含子变化
7. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. [O] . Laugel Vincent, Dalloz Cécile, Durand M., 2010

机译：涉及Cockayne综合征的CSB / ERCC6和CSA / ERCC8基因的突变更新。

Exome sequencing revealed a novel deletion in the ERCC8 ERCC8 gene in an Iranian family with Cockayne syndrome

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