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Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia.

作者信息

Gofin Yoel, Scott Daryl A

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.

出版信息

J Pediatr. 2022 Sep;248:13-14. doi: 10.1016/j.jpeds.2022.05.059. Epub 2022 Jun 3.

DOI:10.1016/j.jpeds.2022.05.059
PMID:35667445
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9912172/
Abstract
摘要

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Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia.先天性膈疝患者的循证基因检测
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De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.与膈疝和严重大脑皮质发育异常相关的新发SETD5无义突变
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Association of Down syndrome and morgagni hernia.唐氏综合征与 Morgagni 疝的关联。
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Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.外显子组测序鉴定出一个隐性PIGN剪接位点突变是综合征性先天性膈疝的一个病因。
Eur J Med Genet. 2014 Sep;57(9):487-93. doi: 10.1016/j.ejmg.2014.05.001. Epub 2014 May 20.
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Survival of Three Neonates With Congenital Diaphragmatic Hernia and d-Transposition of the Great Arteries.三名患有先天性膈疝和大动脉d-转位的新生儿的存活情况。
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本文引用的文献

1
Underlying genetic etiologies of congenital diaphragmatic hernia.先天性膈疝的潜在遗传病因。
Prenat Diagn. 2022 Mar;42(3):373-386. doi: 10.1002/pd.6099. Epub 2022 Jan 22.
2
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.临床外显子组测序数据显示，先天性膈疝加（CDH+）的诊断率很高，并发现了新的涉及 CDH 的表型扩展。
J Med Genet. 2022 Mar;59(3):270-278. doi: 10.1136/jmedgenet-2020-107317. Epub 2021 Jan 18.
3
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.证据表明 FGFRL1 有助于人类先天性膈疝的发展。
Am J Med Genet A. 2021 Mar;185(3):836-840. doi: 10.1002/ajmg.a.62066. Epub 2021 Jan 14.
4
The influence of genetics in congenital diaphragmatic hernia.遗传学对先天性膈疝的影响。
Semin Perinatol. 2020 Feb;44(1):151169. doi: 10.1053/j.semperi.2019.07.008. Epub 2019 Aug 1.
5
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.靶向二代测序揭示孤立性先天性膈疝的遗传特征。
Prenat Diagn. 2018 Aug;38(9):654-663. doi: 10.1002/pd.5327. Epub 2018 Jul 19.
6
Defining outcomes following congenital diaphragmatic hernia using standardised clinical assessment and management plan (SCAMP) methodology within the CDH EURO consortium.使用先天性膈疝 EURO 联盟内的标准化临床评估和管理计划 (SCAMP) 方法定义先天性膈疝的结局。
Pediatr Res. 2018 Aug;84(2):181-189. doi: 10.1038/s41390-018-0063-3. Epub 2018 May 29.
7
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.导致先天性膈疝的ZFPM2突变和缺失的患病率及外显率
Clin Genet. 2015 Apr;87(4):362-7. doi: 10.1111/cge.12395. Epub 2014 Apr 26.
8
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.临床全外显子测序用于孟德尔疾病的诊断。
N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.
9
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.导致孤立性和非孤立性先天性膈疝发展的基因组改变。
J Med Genet. 2011 May;48(5):299-307. doi: 10.1136/jmg.2011.089680.
10
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.共识声明：对于患有发育障碍或先天畸形的个体，染色体微阵列是一线临床诊断测试。
Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006.