[1]徐丙杰,许迎春,李薇,等.家系全基因组拷贝数变异测序检测诊断13号染色体微重复患儿的临床分析[J].医学研究与战创伤救治(原医学研究生学报),2021,23(6):651-653.[doi:10.3969/j.issn.1672-271X.2021.06.020]
点击复制
家系全基因组拷贝数变异测序检测诊断13号染色体微重复患儿的临床分析(
)
)《医学研究与战创伤救治》（原医学研究生学报）[ISSN:1672-271X/CN:32-1713/R]
- 卷:
- 第23卷
- 期数:
- 2021年6期
- 页码:
- 651-653
- 栏目:
- 出版日期:
- 2021-12-15
文章信息/Info
- Title:
- -
- 关键词:
- 13号染色体微重复; 家系全基因组拷贝数变异测序; 发育迟缓; 难治性癫痫; 反复感染
- Keywords:
- -
- 分类号:
- R722.11
- 文献标志码:
- B
- 摘要:
- 目的对13号染色体微重复患儿进行遗传学病因研究，并分析诊治过程，提高临床认识。方法报道2018年11月 南京医科大学附属明基医院收治的1例表现为精神运动发育迟缓、难治性癫痫及反复呼吸道感染的13号染色体微重复 患儿的临床资料，对患儿持续地进行临床随诊，并采用家系全基因组拷贝数变异（CNV）测序（Trio-CNVseq）检测 患儿及其父母的染色体基因微结构，对可能出现的异常基因拷贝进行精确定位和定量。结果患儿于生后8个月死亡。 Trio-CNVseq检测显示患儿染色体微重复，chr13q12.12-q12.12（chr13:23528440-24922980）位置存在约1.39 Mb的 可能致病性CNV，患儿为单倍重复，父亲为野生型，母亲为野生型；CNV区域涵盖3种明确的致病基因，即γ-肌聚糖 基因（SGCG基因）、线粒体中间肽酶基因（MIPEP基因）以及痉挛性共济失调Charlevoix-Saguenay基因（SACS基因 ）；chr13:23528440-24922980区域异常为尚未报道过的13号染色体微重复。结论13号染色体（chr13:23528440- 24922980）1.39 Mb微重复是患儿精神运动发育迟缓、难治性癫痫及反复感染的遗传学基础，Trio-CNVseq能够准确 地检测染色体的微小变异，有助于临床医师及时明确病因、判断预后，予以恰当治疗。
- Abstract:
- -
参考文献/References:
[1]Mohammadzadeh A, Akbaroghli S, Aghaei-Moghadam E, et al. Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies[J]. Cell J,2019,21(3):337-349.
[2]Mai CT, Isenburg JL, Canfield MA,et al.National population-based estimates for major birth defects, 2010-2014[J]. Birth Defects Res,2019,111(18): 1420-1435.
[3]Ye D, Zaidi AA, Tomaszkiewicz M, et al.High Levels of Copy Number Variation of Ampliconic Genes across Major Human Y Haplogroups[J].Genome Biol Evol,2018,10(5): 1333-1350.
[4]Zmienko A, Marszalek-Zenczak M, Wojciechowski P,et al.AthCNV: A Map of DNA Copy Number Variations in the Arabidopsis Genome[J].Plant Cell,2020,32(6): 1797-1819.
[5]Mohammadzadeh A, Akbaroghli S, Aghaei-Moghadam E,et al.Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies [J].Cell J,2019,21(3):337-349.
[6]Lu YP, Song XQ, Ji G,et al.Identification of a novel SGCA missense mutation in a case of limb- girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins[J].Neuropathology,2019,39 (3): 207-211.
[7]DiCapua D,Patwa H.Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C[J].J Clin Neuromuscul Dis,2014,15(3):105-107.
[8]Eldomery MK,Akdemir ZC,Vgtle FN,et al.MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death[J].Genome Med,2016,8(1):106.
[9]Pilliod J,Moutton S,Lavie J,et al.New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay[J]. Ann Neurol, 2015,78 (6):871-886.
[10]Palmio J,Karppa M,Baumann P,et al.Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family[J]. Clin Case Rep, 2016,4 (12):1151-1156.
相似文献/References:
备注/Memo
- 备注/Memo:
- -
常用功能
统计/Statistics
- 摘要浏览/Viewed270
- 全文下载/Downloads263
- 评论/Comments
