Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis
Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF remains a challenge which is essential to address for prenatal counseling. We extracted DNA from a pro...
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Frontiers Media S.A.
2021-08-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.684555/full |
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| author | Yuan Chen Ying Jiang Bangwu Chen Yeqing Qian Jiao Liu Mengmeng Yang Baihui Zhao Qiong Luo |
| author_facet | Yuan Chen Ying Jiang Bangwu Chen Yeqing Qian Jiao Liu Mengmeng Yang Baihui Zhao Qiong Luo |
| author_sort | Yuan Chen |
| collection | DOAJ |
| description | Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF remains a challenge which is essential to address for prenatal counseling. We extracted DNA from a proband prenatally diagnosed unexplained NIHF. Trio-whole exome sequencing (WES) was performed to filter candidate causative variants. Two gene mutations were identified as a compound heterozygous state in the proband. Both variants located on the PIEZO1 gene: c.3895C > T, a missense mutation in exon 27 paternally inherited; c.4030_4032del, a maternally inherited in-frame deletion in exon 28. Both variants were first reported to be related to NIHF. PIEZO1 gene mutations, leading to an autosomal recessive congenital lymphatic dysplasia, which can present as NIHF and partial or complete resolution postnatally. In conclusion, WES can aid in the elucidation of the genetic cause of NIHF and has a positive effect on the assessment of prognosis. |
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| issn | 1664-8021 |
| language | English |
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| publishDate | 2021-08-01 |
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| spelling | doaj.art-f98bc5fac3ef4b918c76aaf1b09aa9b32022-12-21T22:11:02ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-08-011210.3389/fgene.2021.684555684555Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops FetalisYuan Chen0Ying Jiang1Bangwu Chen2Yeqing Qian3Jiao Liu4Mengmeng Yang5Baihui Zhao6Qiong Luo7Department of Obstetrics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Obstetrics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Obstetrics, Ninghai Maternal and Child health Care Hospital, Ningbo, ChinaDepartment of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Obstetrics, Lishui Maternal and Child Health Care Hospital, Lishui, ChinaDepartment of Obstetrics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Obstetrics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Obstetrics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaNonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF remains a challenge which is essential to address for prenatal counseling. We extracted DNA from a proband prenatally diagnosed unexplained NIHF. Trio-whole exome sequencing (WES) was performed to filter candidate causative variants. Two gene mutations were identified as a compound heterozygous state in the proband. Both variants located on the PIEZO1 gene: c.3895C > T, a missense mutation in exon 27 paternally inherited; c.4030_4032del, a maternally inherited in-frame deletion in exon 28. Both variants were first reported to be related to NIHF. PIEZO1 gene mutations, leading to an autosomal recessive congenital lymphatic dysplasia, which can present as NIHF and partial or complete resolution postnatally. In conclusion, WES can aid in the elucidation of the genetic cause of NIHF and has a positive effect on the assessment of prognosis.https://www.frontiersin.org/articles/10.3389/fgene.2021.684555/fullwhole exome sequencingnonimmune hydrops fetalisPIEZO1 genesanger sequencingcase report |
| spellingShingle | Yuan Chen Ying Jiang Bangwu Chen Yeqing Qian Jiao Liu Mengmeng Yang Baihui Zhao Qiong Luo Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis Frontiers in Genetics whole exome sequencing nonimmune hydrops fetalis PIEZO1 gene sanger sequencing case report |
| title | Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis |
| title_full | Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis |
| title_fullStr | Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis |
| title_full_unstemmed | Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis |
| title_short | Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis |
| title_sort | case report whole exome sequencing revealed two novel mutations of piezo1 implicated in nonimmune hydrops fetalis |
| topic | whole exome sequencing nonimmune hydrops fetalis PIEZO1 gene sanger sequencing case report |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2021.684555/full |
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