一例胎儿淋巴水肿的家系基因遗传学分析

doi:10.12280/gjszjk.20240169

国际生殖健康/计划生育杂志 ›› 2024, Vol. 43 ›› Issue (5): 395-398.doi: 10.12280/gjszjk.20240169

一例胎儿淋巴水肿的家系基因遗传学分析

陈新英, 黄婷婷, 曾书红, 江矞颖, 庄建龙()

362000 福建省泉州市妇幼保健·儿童医院产前诊断中心（陈新英，曾书红，江矞颖，庄建龙），产科（黄婷婷）

收稿日期:2024-04-10 出版日期:2024-09-15 发布日期:2024-09-19
通讯作者: 庄建龙 E-mail:415913261@qq.com
基金资助:
福建省卫生健康重大科研专项资助计划(2021ZD01002)

Genetic Etiology Analysis of A Case of Fetal Lymphedema

CHEN Xin-ying, HUANG Ting-ting, ZENG Shu-hong, JIANG Yu-ying, ZHUANG Jian-long()

Prenatal Diagnosis Center (CHEN Xin-ying, ZENG Shu-hong, JIANG Yu-ying, ZHUANG Jian-long), Department of Obstetrics (HUANG Ting-ting), Quanzhou Women′s and Children′s Hospital, Quanzhou 362000, Fujian Province, China

Received:2024-04-10 Published:2024-09-15 Online:2024-09-19
Contact: ZHUANG Jian-long E-mail:415913261@qq.com

摘要/Abstract

摘要：

报告1例胎儿淋巴水肿，其母孕中期行胎儿染色体核型分析及单核苷酸多态性微阵列（single nucleotide polymorphism array，SNP array）检测未见明显异常。孕晚期孕妇自觉胎动减少，超声检查提示宫内死胎，对引产胎儿及其父母进行全外显子组测序（whole exome sequencing，WES），发现胎儿携带CELSR1基因杂合缺失c.5060-1_5069delGCCATGCCTCA，父母WES检测结果显示胎儿父亲同时携带该变异且具有正常表型。考虑CELSR1基因杂合缺失与淋巴水肿具有一定相关性，但其临床表型不完全外显。

关键词: 全外显子组测序, 染色体, 核型分析, 多态性，单核苷酸, 基因检测, CELSR1基因

Abstract:

We reported a case of fetal lymphedema. The chromosome karyotype analysis of fetus and single nucleotide polymorphism array (SNP array) of the amniotic fluid cells showed no abnormalities in the mid pregnancy. However, the pregnant woman perceived a decrease in fetal movement in the late pregnancy, and ultrasound indicated intrauterine stillbirth. Whole exome sequencing (WES) showed that the fetus carried loss of heterozygosity of CELSR1 gene c.5060-1_ 5069 delGCCATGCCTCA. The WES results also showed that the fetal father also carried the mutation and had a normal phenotype. There is a certain correlation between loss of heterozygosity in the CELSR1 gene and lymphedema, but its clinical phenotype is incomplete penetrance.

Key words: Whole exome sequencing, Chromosomes, Karyotyping, Polymorphism, single nucleotide, Genetic testing, CELSR1 gene

陈新英, 黄婷婷, 曾书红, 江矞颖, 庄建龙. 一例胎儿淋巴水肿的家系基因遗传学分析[J]. 国际生殖健康/计划生育杂志, 2024, 43(5): 395-398.

CHEN Xin-ying, HUANG Ting-ting, ZENG Shu-hong, JIANG Yu-ying, ZHUANG Jian-long. Genetic Etiology Analysis of A Case of Fetal Lymphedema[J]. Journal of International Reproductive Health/Family Planning, 2024, 43(5): 395-398.

图/表 3

参考文献 13

[1]	Grada AA, Phillips TJ. Lymphedema: Pathophysiology and clinical manifestations[J]. J Am Acad Dermatol, 2017, 77(6):1009-1020. doi: 10.1016/j.jaad.2017.03.022. pmid: 29132848
[2]	Kearney HM, Thorland EC, Brown KK, et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants[J]. Genet Med, 2011, 13(7):680-685. doi: 10.1097/GIM.0b013e3182217a3a. pmid: 21681106
[3]	Rockson SG. Addressing the unmet needs in lymphedema risk management[J]. Lymphat Res Biol, 2006, 4(1):42-46. doi: 10.1089/lrb.2006.4.42. pmid: 16569207
[4]	Brouillard P, Boon L, Vikkula M. Genetics of lymphatic anomalies[J]. J Clin Invest, 2014, 124(3):898-904. doi: 10.1172/JCI71614. pmid: 24590274
[5]	Halbleib JM, Nelson WJ. Cadherins in development: cell adhesion, sorting, and tissue morphogenesis[J]. Genes Dev, 2006, 20(23):3199-3214. doi: 10.1101/gad.1486806.
[6]	Chen Z, Luo S, Liu ZG, et al. CELSR1 variants are associated with partial epilepsy of childhood[J]. Am J Med Genet B Neuropsychiatr Genet, 2022, 189(7/8):247-256. doi: 10.1002/ajmg.b.32916.
[7]	Theis JL, Niaz T, Sundsbak RS, et al. CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome[J]. Circ Genom Precis Med, 2022, 15(2):e003523. doi: 10.1161/CIRCGEN.121.003523.
[8]	Brzóska HŁ, d′Esposito AM, Kolatsi-Joannou M, et al. Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning[J]. Kidney Int, 2016, 90(6):1274-1284. doi: 10.1016/j.kint.2016.07.011. pmid: 27597235
[9]	Tatin F, Taddei A, Weston A, et al. Planar cell polarity protein Celsr1 regulates endothelial adherens junctions and directed cell rearrangements during valve morphogenesis[J]. Dev Cell, 2013, 26(1):31-44. doi: 10.1016/j.devcel.2013.05.015. pmid: 23792146
[10]	Xia S, Liu Z, Yan H, et al. Lymphedema complicated by protein-losing enteropathy with a 22q13.3 deletion and the potential role of CELSR1: A case report[J]. Medicine(Baltimore), 2021, 100(24):e26307. doi: 10.1097/MD.0000000000026307.
[11]	Maltese PE, Michelini S, Ricci M, et al. Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants[J]. Am J Med Genet A, 2019, 179(9):1718-1724. doi: 10.1002/ajmg.a.61269. pmid: 31215153
[12]	Gonzalez-Garay ML, Aldrich MB, Rasmussen JC, et al. A novel mutation in CELSR1 is associated with hereditary lymphedema[J]. Vasc Cell, 2016, 8:1. doi: 10.1186/s13221-016-0035-5.
[13]	Seo SH, Lee S, Park JK, et al. Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing[J]. Sci Rep, 2022, 12(1):13591. doi: 10.1038/s41598-022-17958-7. pmid: 35948757

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一例胎儿淋巴水肿的家系基因遗传学分析

Genetic Etiology Analysis of A Case of Fetal Lymphedema

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