• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.墨西哥复发性葡萄胎的遗传学：NLRP7 基因突变的强烈创始效应及其广泛存在的进一步证据。
J Assist Reprod Genet. 2021 Jul;38(7):1879-1886. doi: 10.1007/s10815-021-02132-1. Epub 2021 Mar 22.
2
The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss.NLRP7 基因中的 p.L750V 突变在墨西哥复发性葡萄胎患者中频繁发生，但与复发性妊娠丢失无关。
Prenat Diagn. 2013 Mar;33(3):205-8. doi: 10.1002/pd.4036. Epub 2013 Jan 28.
3
Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.NLRP7 基因突变与二倍体双亲性葡萄胎有关，但与雄激素性完全性葡萄胎无关。
J Med Genet. 2012 Mar;49(3):206-11. doi: 10.1136/jmedgenet-2011-100602. Epub 2012 Feb 7.
4
NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.NLRP7 或 KHDC3L 基因与葡萄胎和复发性流产的病因。
Mol Hum Reprod. 2013 Nov;19(11):773-81. doi: 10.1093/molehr/gat056. Epub 2013 Aug 19.
5
NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.NLRP7 突变分析在突尼斯患者的散发性葡萄胎中：NLRP7 和散发性葡萄胎。
Arch Pathol Lab Med. 2012 Jun;136(6):646-51. doi: 10.5858/arpa.2011-0399-OA.
6
NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles.中国复发性葡萄胎患者中 NLRP7 和 KHDC3L 变异体。
Jpn J Clin Oncol. 2019 Jul 1;49(7):620-627. doi: 10.1093/jjco/hyz036.
7
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.C6orf221/KHDC3L 蛋白截断突变的 4 例新患者报告及与 NLRP7 的共定位
Eur J Hum Genet. 2013 Sep;21(9):957-64. doi: 10.1038/ejhg.2012.274. Epub 2012 Dec 12.
8
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.患有复发性葡萄胎且存在两个NLRP7基因突变的女性的活产情况。
Reprod Biomed Online. 2015 Jul;31(1):120-4. doi: 10.1016/j.rbmo.2015.03.011. Epub 2015 Apr 16.
9
Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?家族性复发性葡萄胎中新型 NLRP7 突变：NLRP7 突变是否是复发性生殖不良的风险因素？
Eur J Obstet Gynecol Reprod Biol. 2013 Sep;170(1):188-92. doi: 10.1016/j.ejogrb.2013.06.028. Epub 2013 Jul 20.
10
The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.法国复发性葡萄胎患者中 NLRP7 突变的频谱。
Eur J Obstet Gynecol Reprod Biol. 2011 Aug;157(2):197-9. doi: 10.1016/j.ejogrb.2011.02.019. Epub 2011 Mar 25.

引用本文的文献

1
The retrospective data analysis of NLRP7 and KHDC3L mutations in Turkish patients with recurrent hydatidiform mole.土耳其复发性葡萄胎患者中NLRP7和KHDC3L突变的回顾性数据分析
Turk J Obstet Gynecol. 2025 Sep 5;22(3):230-236. doi: 10.4274/tjod.galenos.2025.40456.
2
Hydatidiform Mole-Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review.葡萄胎——介于染色体异常、单亲二体性和单基因变异之间：一篇综述
Life (Basel). 2023 Dec 10;13(12):2314. doi: 10.3390/life13122314.
3
Advances in the diagnosis and early management of gestational trophoblastic disease.妊娠滋养细胞疾病的诊断与早期管理进展
BMJ Med. 2022 Dec 16;1(1):e000321. doi: 10.1136/bmjmed-2022-000321. eCollection 2022.
4
Maternal effect genes: Update and review of evidence for a link with birth defects.母体效应基因：与出生缺陷关联证据的更新与综述
HGG Adv. 2021 Oct 16;3(1):100067. doi: 10.1016/j.xhgg.2021.100067. eCollection 2022 Jan 13.

本文引用的文献

1
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.在复发性葡萄胎和生殖失败患者中，NLRP7、NLRP5 和 PADI6 中的新型致病性变异体。
Clin Genet. 2021 Jun;99(6):823-828. doi: 10.1111/cge.13941. Epub 2021 Feb 23.
2
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.双等位基因 PADI6 变异导致同一家庭的多位点印记紊乱和流产。
Eur J Hum Genet. 2021 Apr;29(4):575-580. doi: 10.1038/s41431-020-00762-0. Epub 2020 Nov 21.
3
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.PADI6 的功能丧失型母源性效应突变与多基因印记紊乱相关的家族性和散发性 Beckwith-Wiedemann 综合征有关。
Clin Epigenetics. 2020 Sep 14;12(1):139. doi: 10.1186/s13148-020-00925-2.
4
Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.204例散发性葡萄胎的综合分析：重新审视危险因素及其与葡萄胎基因型的相关性。
Mod Pathol. 2020 May;33(5):880-892. doi: 10.1038/s41379-019-0432-4. Epub 2019 Dec 19.
5
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation.一个 KHDC3L 突变导致复发性葡萄胎，导致卵子中全基因组 DNA 甲基化丢失，并在受精后持续存在印迹缺陷。
Genome Med. 2019 Dec 17;11(1):84. doi: 10.1186/s13073-019-0694-y.
6
A Novel Mutation in NLRP7 Related to Recurrent Hydatidiform Mole and Reproductive Failure.与复发性葡萄胎和生殖失败相关的NLRP7新突变
Int J Fertil Steril. 2019 Jul;13(2):135-138. doi: 10.22074/ijfs.2019.5657. Epub 2019 Apr 27.
7
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.致性葡萄胎的致病变异及机制。
Am J Hum Genet. 2018 Nov 1;103(5):740-751. doi: 10.1016/j.ajhg.2018.10.007.
8
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.双等位基因 PADI6 变异与不孕、流产和葡萄胎有关。
Eur J Hum Genet. 2018 Jul;26(7):1007-1013. doi: 10.1038/s41431-018-0141-3. Epub 2018 Apr 25.
9
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.复发性葡萄胎的遗传学：113 例患者综合分析的新见解和教训。
Mod Pathol. 2018 Jul;31(7):1116-1130. doi: 10.1038/s41379-018-0031-9. Epub 2018 Feb 20.
10
Hydatidiform Moles: Genetic Basis and Precision Diagnosis.葡萄胎：遗传学基础与精准诊断。
Annu Rev Pathol. 2017 Jan 24;12:449-485. doi: 10.1146/annurev-pathol-052016-100237.

墨西哥复发性葡萄胎的遗传学：NLRP7 基因突变的强烈创始效应及其广泛存在的进一步证据。

The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

机构信息

Department of Genetics and Human Genomics, Instituto Nacional de Perinatología, Montes Urales 800 Col. Lomas Virreyes, 11000, Mexico City, Mexico.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

出版信息

J Assist Reprod Genet. 2021 Jul;38(7):1879-1886. doi: 10.1007/s10815-021-02132-1. Epub 2021 Mar 22.

DOI:10.1007/s10815-021-02132-1
PMID:33751332
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8324737/
Abstract

PURPOSE

To investigate the frequency of a founder mutation in NLRP7, L750V, in independent cohorts of Mexican patients with recurrent hydatidiform moles (RHMs).

METHODS

Mutation analysis was performed by Sanger sequencing on DNA from 44 unrelated Mexican patients with RHMs and seven molar tissues from seven additional unrelated patients.

RESULTS

L750V was present in homozygous or heterozygous state in 37 (86%) patients and was transmitted on the same haplotype to patients from different states of Mexico. We also identified a second founder mutation, c.2810+2T>G in eight (18.1%) patients, and a novel premature stop-codon mutation W653*.

CONCLUSION

Our data confirm the strong founder effect for L750V, which appears to be the most common mutation in NLRP7. We also report on six healthy live births to five patients with biallelic NLRP7 mutations, two from spontaneous conceptions and four from donated ovum and discuss our recommendations for DNA testing and genetic counseling.

摘要

目的

在独立的墨西哥复发性葡萄胎（RHMs）患者队列中，调查 NLRP7 中的 L750V 创始突变的频率。

方法

对 44 名 RHMs 无关的墨西哥患者和另外 7 名无关患者的 7 份葡萄胎组织的 DNA 进行 Sanger 测序进行突变分析。

结果

L750V 在 37 名（86%）患者中以纯合或杂合状态存在，并在同一单倍型上传递给来自墨西哥不同州的患者。我们还在 8 名（18.1%）患者中发现了第二个创始突变 c.2810+2T>G，以及一个新的提前终止密码子突变 W653*。

结论

我们的数据证实了 L750V 的强烈创始效应，它似乎是 NLRP7 中最常见的突变。我们还报告了六例健康的活产，其中五例患者存在 NLRP7 双等位基因突变，两例来自自然受孕，四例来自捐赠的卵子，并讨论了我们对 DNA 检测和遗传咨询的建议。