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通过一种新的靶向外显子组测序策略，对超声检查结果异常的胎儿进行检测，实现了与基因突变相关的X连锁肌病的产前诊断。

Prenatal diagnosis of X-linked myopathy associated with a gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.

作者信息

Konialis Christopher, Assimakopoulos Efstratios, Hagnefelt Birgitta, Karapanou Sophia, Sotiriadis Alexandros, Pangalos Constantinos

机构信息

InterGenetics - Diagnostic Genetics Centre Athens 11526 Greece; Genomis Ltd, Lynton House London WC1H 9BQ UK.

2nd Department of Obstetrics and Gynecology Ippokrateion General Hospital Aristotle University of Thessaloniki Thessaloniki Greece.

出版信息

Clin Case Rep. 2017 Feb 4;5(3):308-311. doi: 10.1002/ccr3.822. eCollection 2017 Mar.

DOI:10.1002/ccr3.822
PMID:28265396
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5331204/
Abstract

Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X-linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing-based approach.

摘要

通过常规产前超声检查发现的胎儿畸形包括一组异质性疾病，可能与遗传疾病有关，但其潜在病因难以确定。我们报告了一例罕见的X连锁肌病的产前诊断，该病例通过一种基于新型产前外显子组测序的方法检测到一个新的VMA21基因突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3644/5331204/bfdcb8e8e1c7/CCR3-5-308-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3644/5331204/bfdcb8e8e1c7/CCR3-5-308-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3644/5331204/bfdcb8e8e1c7/CCR3-5-308-g001.jpg

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Prenatal diagnosis of X-linked myopathy associated with a gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.通过一种新的靶向外显子组测序策略，对超声检查结果异常的胎儿进行检测，实现了与基因突变相关的X连锁肌病的产前诊断。
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本文引用的文献

1
First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects.靶向外显子组测序方法在超声异常胎儿中的首次应用揭示了相当一部分伴有相关基因缺陷的病例。
PeerJ. 2016 Apr 26;4:e1955. doi: 10.7717/peerj.1955. eCollection 2016.
2
Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?产前诊断的当前争议2：胎儿外显子组是否应用于评估畸形或结构异常胎儿？
Prenat Diagn. 2016 Jan;36(1):15-9. doi: 10.1002/pd.4718. Epub 2015 Nov 22.
3
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
用于超声异常胎儿产前诊断的外显子组测序
Prenat Diagn. 2015 Oct;35(10):1010-7. doi: 10.1002/pd.4675. Epub 2015 Sep 11.
4
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.在一家大型学术性私立生殖遗传咨询机构中，与诊断性外显子组测序相关的生殖遗传咨询挑战。
Prenat Diagn. 2015 Oct;35(10):1022-9. doi: 10.1002/pd.4674. Epub 2015 Sep 4.
5
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.外显子组测序在超过半数有产前超声异常迹象的病例中明确鉴定出相关变异。
Prenat Diagn. 2015 Nov;35(11):1073-8. doi: 10.1002/pd.4648. Epub 2015 Aug 3.
6
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.先天性自噬性空泡性肌病与伴有过度自噬的X连锁肌病等位。
Neurology. 2015 Apr 21;84(16):1714-6. doi: 10.1212/WNL.0000000000001499. Epub 2015 Mar 27.
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