详情页 - 云南省第一人民医院机构库

当前位置：首页 > 详情页

The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study(Open Access)

37| 导出 | 链接全文 |

文献详情

资源类型：

WOS体系：

Pubmed体系：

收录情况： ◇ SCIE

作者：

机构： [a]Department of Medical Genetics, The First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, [b]Faculty of Life Science and Biotechnology, Kunming University of Science and Technology, [c]Department of Neurology, The Second People’s Hospital of Yunnan Province, [d]Department of Pediatrics, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China, e Tissue Tech, Inc., Ocular Surface Center, and Ocular Surface Research & Education Foundation, Miami, FL.

出处：

DOI：

ISSN：

关键词： clinical phenotype and genotype multiplex ligation-dependent probe amplification (MLPA) neuronal apoptosis inhibitory protein spinal muscular atrophy survival motor neuron gene

摘要：

In this article, the correlation between the copy number of survival motor neuron 2 (SMN2) gene, neuronal apoptosis inhibitory protein (NAIP), and the phenotype of spinal muscular atrophy patients were analyzed.Forty patients with spinal muscular atrophy (SMA) were included in the study at the Department of Medical Genetics of the First People's Hospital and the Department of Neurology of the Second People's Hospital in Yunnan Province from January 2012 to September 2018. Multiplex ligation-dependent probe amplification assay was performed to determine the copy numbers of SMN2 and NAIP genes. Statistical analysis was performed to determine the correlation between copy numbers of the SMN2 and NAIP genes and the clinical phenotypes of SMA.Our results show that among the 40 SMA patients, there were 13 type I cases, 16 type II cases and 11 type III cases. A total of 37 patients possessed a homozygous deletion of SMN1 exons 7 and 8, while the other 3 SMA patients possessed a single copy of SMN1 exon 8. There was no correlation between SMA subtypes and the deletion types of SMN1 exon 7 and 8 (P=.611). The percentage of 2, 3, and 4 copies of SMN2 exon 7 was 25.0%, 62.5%, and 12.5%, respectively. The percentage of 0, 1, and 2 copies of NAIP exon 5 was 10%, 57.5%, and 32.5%, respectively. The distributions of SMN2 and NAIP copy numbers among various SMA types were significantly different (all P<.05). Five combined SMN1-SMN2-NAIP genotypes were detected, of which 0-3-1 genotype had the highest proportion than the others, accounting for 42.5%. The copy number of SMN2 and NAIP gene had synergistic effect on SMA phenotype. The combined SMN1-SMN2-NAIP genotypes with fewer copies were associated with earlier onset age, higher mortality, and smaller average age at death in SMA patients.Therefore, we conclude that the copy number variance of SMN2 and NAIP is correlated with the SMA phenotype. Analysis of the copy number structure of the SMN1-SMN2-NAIP gene is helpful for SMA typing, disease prognosis prediction, and genetic counseling. © 2020 the Author(s). Published by Wolters Kluwer Health, Inc.

基金：

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2020]版：

大类 | 4 区医学

小类 | 4 区医学：内科

最新[2023]版：

大类 | 4 区医学

小类 | 4 区医学：内科

JCR分区：

出版当年[2019]版：

Q3 MEDICINE, GENERAL & INTERNAL

最新[2023]版：

Q2 MEDICINE, GENERAL & INTERNAL

影响因子： 1.4 最新[2023版] 1.6 最新五年平均 1.552 出版当年[2019版] 1.998 出版当年五年平均 1.87 出版前一年[2018版] 1.889 出版后一年[2020版]

第一作者：

第一作者机构： [a]Department of Medical Genetics, The First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, [b]Faculty of Life Science and Biotechnology, Kunming University of Science and Technology,

通讯作者：

通讯机构： [a]Department of Medical Genetics, The First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, [*1]Department of Medical Genetics, The First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan 650032, China [*2]Research and Development Department,TissueTech,Inc.,7000 SW 97th Avenue,Suite 212,Miami,FL 33173

推荐引用方式(GB/T 7714)：

APA：

MLA：

The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study(Open Access)

文献详情

相关文献