文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
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
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
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 @ 2025

代理分子尸检:对罕见遗传病遗传咨询的意义

Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.

作者信息

Skrypnyk Cristina, AlHarmi Rawan

机构信息

Assistant Professor, Molecular Genetics, Princess Al-Jawhara Al-Ibrahim Center for Molecular Medicine, Genetics, and Inherited Disorders and Molecular Medicine Department, College of Medicine and Medical Sciences, Arabian Gulf University, Manama, Bahrain.

Consultant Medical Geneticist, University Medical Clinics, Manama, Bahrain.

出版信息

Front Genet. 2024 May 27;15:1400295. doi: 10.3389/fgene.2024.1400295. eCollection 2024.


DOI:10.3389/fgene.2024.1400295
PMID:38859940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11163115/
Abstract

BACKGROUND: Rare genetic disorders may result in death before a definitive clinical diagnosis is established. AIM: This study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare genetic disorders. RESULTS: Six couples who experienced child loss due to rare genetic disorders, seen by the primary author at genetic evaluation and counseling sessions, were retrospectively analyzed. Four out of 6 couples reported consanguinity. Exome and genome sequencing were performed for the parents. Carrier status of two rare lethal metabolic disorders was confirmed in one consanguineous couple. Three couples were carriers of 3 other rare diseases. Variants of LYST, MPV17, HEXB, ITGB4, CD3E, ASPM, TK2, COL11A2, and LAMB3 genes were identified. Six out of 10 were pathogenic variants, out of which 4 correlated with the demised children's phenotypes. One couple was negative for pathogenic variants. The last couple did not undergo genetic testing since they were beyond the fertile window. CONCLUSION: Appropriate parental genetic evaluation and counseling are mandatory for selecting the right genetic test to certify the diagnosis , by virtue of molecular autopsy by proxy. Clarifying a rare disorder diagnosis can help couples to avoid recurrence and plan early for their next pregnancies.

摘要

背景:罕见遗传病可能在明确临床诊断之前导致死亡。 目的:本研究旨在从遗传学角度概述管理因罕见遗传病失去孩子的夫妇的过程和挑战。 结果:对第一作者在基因评估和咨询会议上见到的6对因罕见遗传病失去孩子的夫妇进行了回顾性分析。6对夫妇中有4对报告有血缘关系。对父母进行了外显子组和基因组测序。在一对有血缘关系的夫妇中证实了两种罕见致命代谢疾病的携带者状态。3对夫妇是其他3种罕见疾病的携带者。鉴定出LYST、MPV17、HEXB、ITGB4、CD3E、ASPM、TK2、COL11A2和LAMB3基因的变异。10个变异中有6个是致病变异,其中4个与死亡儿童的表型相关。一对夫妇的致病变异检测为阴性。最后一对夫妇由于已过生育期未进行基因检测。 结论:通过间接分子尸检选择合适的基因检测以确诊,进行适当的父母基因评估和咨询是必要的。明确罕见病诊断有助于夫妇避免复发并为下次怀孕尽早做好计划。

相似文献

[1]
Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.

Front Genet. 2024-5-27

[2]
Molecular autopsy by proxy in preconception counseling.

Clin Genet. 2021-12

[3]
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Orphanet J Rare Dis. 2018-1-26

[4]
First steps in exploring prospective exome sequencing of consanguineous couples.

Eur J Med Genet. 2014

[5]
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.

Eur J Hum Genet. 2021-3

[6]
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.

J Med Genet. 2023-6

[7]
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Genet Med. 2021-6

[8]
User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

J Genet Couns. 2019-4

[9]
A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.

Front Genet. 2021-10-25

[10]
Emphasizing the need for preconceptional, prenatal genetic counseling and comprehensive genetic testing in consanguinity: challenges and experience.

Mol Genet Genomics. 2024-10-4

本文引用的文献

[1]
Islamic perspectives on preconception, prenatal, and perinatal counseling.

Front Pediatr. 2024-2-21

[2]
Supporting the Family After the Death of a Child or Adolescent.

Pediatrics. 2023-12-1

[3]
The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes.

J Pediatr Genet. 2021-11-9

[4]
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.

Arch Public Health. 2023-5-25

[5]
Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death.

Front Med (Lausanne). 2023-2-10

[6]
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).

Genet Med. 2023-5

[7]
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.

JAMA Netw Open. 2023-2-1

[8]
Implementation of Molecular Autopsy for Sudden Cardiac Death in Japan - Focus Group Study of Stakeholders.

Circ J. 2022-12-23

[9]
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.

Genes (Basel). 2022-11-10

[10]
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.

Am J Med Genet A. 2023-1

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索