NEXT GENERATION SEQUENCING IDENTIFIED A NOVEL MULTI EXON DELETION OF THE NF1 GENE IN A CHINESE PEDIGREE WITH NEUROFIBROMATOSIS TYPE 1

Yang J.; An J-X; Liu X-L; Wang Z-Q; Xie G-M; Yang X-L; Xu S-J; Feng F.; Ni Y.

首页> 外文期刊>Balkan journal of medical genetics: BJMG >NEXT GENERATION SEQUENCING IDENTIFIED A NOVEL MULTI EXON DELETION OF THE NF1 GENE IN A CHINESE PEDIGREE WITH NEUROFIBROMATOSIS TYPE 1

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NEXT GENERATION SEQUENCING IDENTIFIED A NOVEL MULTI EXON DELETION OF THE NF1 GENE IN A CHINESE PEDIGREE WITH NEUROFIBROMATOSIS TYPE 1

机译：下一代测序鉴定了一种新的多种外显子缺失NF1基因在具有神经纤维瘤病类型1的中血统中的NF1基因

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Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and cafe-au-lait spots. Mutation in the NF1 gene causes NF1. The NF1 gene encodes neurofibromin. In this study, we found a 31-year-old Chinese boy with NF1. He presented only with cafe-au-lait spots over the whole body. The proband's mother had a severe phenotype with neurofibroma and cafe-au-lait macules over her whole body, mostly in the facial region. A novel multi exon deletion c.(4661+1_4662-1)_(5748+1_5749-1) del; [EX36_39DEL] on the NF1 gene has been identified in the proband. Quantitative real-time polymerase chain reaction (qPCR) confirmed that this mutation is co-segregated well and was inherited from the proband's mother. The mutation was absent in the proband's father and normal individuals. The novel multi exon deletion results in the formation of a truncated NF1 protein that caused the NF1 phenotype in this family. Our present study also emphasized the significance of rapid, accurate and cost-effective screening for the patient with NF1 by next generation sequencing (NGS).

机译：神经纤维瘤病1（NF1）是一种涉及神经皮肤异常的遗传疾病。神经纤维瘤病1是一种常染色体的显性障碍，其特征是神经纤维腈和咖啡馆 - Au-Lait斑点。 NF1基因中的突变导致NF1。 NF1基因编码神经纤维素。在这项研究中，我们找到了一个31岁的中国男孩，患有NF1。他只用整个身体的咖啡馆 - Au-Lait斑点呈现。一般的母亲在整个身体上具有严重的神经纤维瘤和Cafe-Au-Lait Macules严重表型，主要是在面部区域。一种新型多外显子缺失C.（4661 + 1_4662-1）_（5748 + 1_5749-1）Del;在证书中鉴定了NF1基因上的[EX36_39DEL]。定量实时聚合酶链反应（QPCR）证实，该突变是良好的共分配，并从证据的母亲继承。在父亲的父亲和正常的人中缺乏突变。新型多外显子缺失导致形成截短的NF1蛋白，导致该家庭的NF1表型。我们目前的研究还强调了通过下一代测序（NGS）对患者的快速，准确和成本效益筛查的重要性。

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来源
《Balkan journal of medical genetics: BJMG》 |2018年第2期|共4页
作者
Yang J.; An J-X; Liu X-L; Wang Z-Q; Xie G-M; Yang X-L; Xu S-J; Feng F.; Ni Y.;
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作者单位

Gansu Prov Matern &

Child Care Hosp 143 Qilihe North St Lanzhou 730050 Gansu Peoples R China;

Gansu Prov Matern &

Child Care Hosp 143 Qilihe North St Lanzhou 730050 Gansu Peoples R China;

Gansu Prov Matern &

Child Care Hosp 143 Qilihe North St Lanzhou 730050 Gansu Peoples R China;

Gansu Prov Matern &

Child Care Hosp 143 Qilihe North St Lanzhou 730050 Gansu Peoples R China;

Gansu Prov Matern &

Child Care Hosp 143 Qilihe North St Lanzhou 730050 Gansu Peoples R China;

Third Peoples Hosp Liangzhou Dist Wuwei City Gansu Peoples R China;

Gansu Prov Matern &

Child Care Hosp 143 Qilihe North St Lanzhou 730050 Gansu Peoples R China;

Gansu Prov Matern &

Child Care Hosp 143 Qilihe North St Lanzhou 730050 Gansu Peoples R China;

Gansu Prov Matern &

Child Care Hosp 143 Qilihe North St Lanzhou 730050 Gansu Peoples R China;

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正文语种 eng
中图分类遗传学;
关键词
Cafe-au-lai-spots; Multi-exon deletion; Novel mutation; Neurofibromas; Neurofibromatosis type 1 (NF1); Next generation sequencing (NGS);

机译：Cafe-Au-Lai-斑点;多外显子缺失;新突变;神经纤维瘤;神经纤维瘤型1型（NF1）;下一代测序（NGS）;

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专利

1. Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1 [J] . J Yang, J-X An, X-L Liu, Balkan journal of medical genetics: BJMG . 2018,第2期

机译：下一代测序鉴定了中国1型神经纤维瘤病家系中NF1基因的新型多外显子缺失
2. Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene [J] . BallaB., árvaiK., HorváthP., Journal of Molecular Neuroscience: MN . 2014,第2期

机译：使用离子洪流个人基因组机器快速，强大的下一代测序技术，用于筛选1型神经纤维瘤病（NF1）基因
3. Novel Mutation C.7348C＞T in NF1 Gene Identified by Whole-Exome Sequencing in Patient with Overlapping Clinical Symptoms of Neurofibromatosis Type 1 and Bannayan-Riley-Ruvalcaba Syndrome [J] . Rahmani Edris Sharif, Azarpara Hasan, Abazari Mohammad Foad, Cytology and genetics . 2020,第4期

机译：通过重叠临床症状鉴定的NF1基因的新突变C.7348C> T中患者的全纤维瘤症患者1型和Bannayan-Riley-Ruvalcaba综合征的临床症状
4. An Effective and Efficient Algorithm for Detecting Exact Deletion Breakpoints from Viral Next-Generation Sequencing Data [C] . Ji-Hong Cheng, Wen-Chun Liu, Ting-Tsung Chang, International Computer Symposium . 2020

机译：一种有效且有效的算法，用于检测病毒下一代测序数据的精确删除断点
5. Probabilistic insertion, deletion and substitution error correction using Markov inference in next generation sequencing reads [D] . Noroozi, Vahid 2016

机译：在下一代测序读取中使用马尔可夫推论进行概率插入，删除和取代错误校正
6. Next Generation Sequencing Identified a Novel Multi Exon Deletion of the NF1 Gene in a Chinese Pedigree with Neurofibromatosis Type 1 [O] . J Yang, J-X An, X-L Liu, 2018

机译：下一代测序鉴定了中国1型神经纤维瘤病谱系中NF1基因的新型多外显子缺失。
7. Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1 [O] . J Yang, J-X An, X-L Liu, 2018

机译：下一代测序鉴定了一种新的多种外显子缺失NF1基因在具有神经纤维瘤病类型1的中血统中的NF1基因

NEXT GENERATION SEQUENCING IDENTIFIED A NOVEL MULTI EXON DELETION OF THE NF1 GENE IN A CHINESE PEDIGREE WITH NEUROFIBROMATOSIS TYPE 1

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