17p13.3p13.2微缺失胎儿一例并文献复习

doi:10.12280/gjszjk.20220130

摘要/Abstract

摘要：

报告1例采用染色体核型分析及单核苷酸多态性微阵列（single nucleotide polymorphism array,SNP-array）检测对产前影像学检查提示胎儿无脑回畸形、双侧脑室增宽、室间隔缺损及生长受限的患儿进行遗传病因分析情况。SNP-array检测结果显示胎儿在17号染色体17p13.3p13.2区段存在4.3 Mb片段缺失,包含Miller-Dieker综合征疾病区域,经对父母验证后提示该片段缺失为新发变异,说明联合影像学及SNP-array检测进行胎儿出生缺陷筛查与诊断具有重要意义。

关键词: 基因缺失, 多态性,限制性片段长度, 产前诊断, Miller-Dieker综合征, 17p13.3微缺失, 单核苷酸多态性微阵列

Abstract:

A case of 17p13.3p13.2 microdeletion fetus was reported, combined with literature review. This is a fetus with the anencephaly and bilateral ventricle widening, ventricular septal defect and fetal growth restriction detected by imaging examination. Traditional chromosomal karyotype and single nucleotide polymorphism array (SNP-array) analysis were employed for the genetic etiology analysis. The SNP-array detection demonstrated a 4.3 Mb deletion in 17p13.3p13.2 region of chromosome 17 in the fetus, which covering the Miller-Dieker syndrome disease region. Parental SNP-array verificated that this microdeletion was a de novo variant. It is of great significance combining use of imaging and SNP-array technology to screen and diagnose fetal birth defects.

Key words: Gene deletion, Polymorphism, restriction fragment length, Prenatal diagnosis, Miller-Dieker syndrome, 17p13.3 microdeletion, Single nucleotide polymorphism array

李燕青, 傅婉玉, 吴素霞, 江矞颖, 王元白, 庄建龙. 17p13.3p13.2微缺失胎儿一例并文献复习[J]. 国际生殖健康/计划生育, 2022, 41(5): 389-392.

LI Yan-qing, FU Wan-yu, WU Su-xia, JIANG Yu-ying, WANG Yuan-bai, ZHUANG Jian-long. A Case of 17p13.3p13.2 Microdeletion Fetus and Literature Review[J]. Journal of International Reproductive Health/Family Planning, 2022, 41(5): 389-392.

图/表 2

参考文献 18

[1]	Blazejewski SM, Bennison SA, Smith TH, et al. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3[J]. Front Genet, 2018, 9:80. doi: 10.3389/fgene.2018.00080. doi: 10.3389/fgene.2018.00080 pmid: 29628935
[2]	Cardoso C, Leventer RJ, Ward HL, et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3[J]. Am J Hum Genet, 2003, 72(4):918-930. doi: 10.1086/374320. doi: 10.1086/374320 pmid: 12621583
[3]	Nagamani SC, Zhang F, Shchelochkov OA, et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment[J]. J Med Genet, 2009, 46(12):825-833. doi: 10.1136/jmg.2009.067637. doi: 10.1136/jmg.2009.067637 pmid: 19584063
[4]	Toyo-Oka K, Shionoya A, Gambello MJ, et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome[J]. Nat Genet, 2003, 34(3):274-285. doi: 10.1038/ng1169. doi: 10.1038/ng1169 pmid: 12796778
[5]	Brock S, Dobyns WB, Jansen A. PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia[M/OL]// Adam MP,Mirzaa GM,Pagon RA,et al. GeneReviews ®. Seattle (WA): University of Washington, 1993. [2021-03-25]. https://www.ncbi.nlm.nih.gov/books/NBK5189/.
[6]	Feinstein M, Flusser H, Lerman-Sagie T, et al. VPS 53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)[J]. J Med Genet, 2014, 51(5):303-308. doi: 10.1136/jmedgenet-2013-101823. doi: 10.1136/jmedgenet-2013-101823 pmid: 24577744
[7]	Kataoka K, Matsushima T, Ito Y, et al. Bhlha9 regulates apical ectodermal ridge formation during limb development[J]. J Bone Miner Metab, 2018, 36(1):64-72. doi: 10.1007/s00774-017-0820-0. doi: 10.1007/s00774-017-0820-0 pmid: 28324176
[8]	Cornell B, Toyo-Oka K. 14-3-3 Proteins in Brain Development: Neurogenesis, Neuronal Migration and Neuromorphogenesis[J]. Front Mol Neurosci, 2017, 10:318. doi: 10.3389/fnmol.2017.00318. doi: 10.3389/fnmol.2017.00318 pmid: 29075177
[9]	Barros Fontes MI, Dos Santos AP, Rossi Torres F, et al. 17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation[J]. Mol Syndromol, 2017, 8(1):36-41. doi: 10.1159/000452753. doi: 10.1159/000452753 pmid: 28232781
[10]	Yingling J, Toyo-Oka K, Wynshaw-Boris A. Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse[J]. Am J Hum Genet, 2003, 73(3):475-488. doi: 10.1086/378096. doi: 10.1086/378096 pmid: 12905154
[11]	Herbst SM, Proepper CR, Geis T, et al. LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs[J]. Brain Dev, 2016, 38(4):399-406. doi: 10.1016/j.braindev.2015.10.001. doi: 10.1016/j.braindev.2015.10.001 URL
[12]	Chen CP, Chang TY, Guo WY, et al. Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review[J]. Gene, 2013, 532(1):152-159. doi: 10.1016/j.gene.2013.09.044. doi: 10.1016/j.gene.2013.09.044 URL
[13]	Shi X, Huang W, Lu J, et al. Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray[J]. Ann Hum Genet, 2021, 85(2):92-96. doi: 10.1111/ahg.12407. doi: 10.1111/ahg.12407 pmid: 33026665
[14]	李胜利, 罗国阳. 胎儿畸形产前超声诊断学[M]. 2版. 北京: 科学出版社, 2017:6.
[15]	师达, 石亚男, 杨旭娟, 等. 胎儿神经元移行异常的MRl特征(附4例报告)[J]. 宁夏医科大学学报, 2017, 39(8):2. doi: 10.16050/j.cnki.issn1674-6309.2017.08.031. doi: 10.16050/j.cnki.issn1674-6309.2017.08.031
[16]	徐两蒲, 黄海龙, 王燕, 等. 产前诊断一例Miller-Dieker综合征胎儿[J]. 中华医学遗传学杂志, 2017, 34(6):879-883. doi: 10.3760/cma.j.issn.1003-9406.2017.06.021. doi: 10.3760/cma.j.issn.1003-9406.2017.06.021
[17]	张禾璇, 杨雪, 汤贤英, 等. 产前诊断Miller-Dieker综合征胎儿一例[J]. 中华医学遗传学杂志, 2020, 37(11):1280-1282. doi: 10.3760/cma.j.cn511374-20190902-00443. doi: 10.3760/cma.j.cn511374-20190902-00443
[18]	章锦曼, 杨必成, 冯燕, 等. Miller-Dieker综合征新发染色体突变胎儿二例产前诊断[J]. 中华妇产科杂志, 2017, 52(10):700-702. doi: 10.3760/cma.j.issn.0529-567x.2017.10.010. doi: 10.3760/cma.j.issn.0529-567x.2017.10.010