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Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene
Intracranial hemorrhage is a common complication in preterm infants but occasionally occurs in fetuses. Disruptions of the genes, such as the COL4A1 and COL4A2 genes, are common genetic causes identified in fetal intracranial hemorrhage; however, the disruptions of the JAM3 gene are rarely reported....
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629614/ https://www.ncbi.nlm.nih.gov/pubmed/36339007 http://dx.doi.org/10.3389/fgene.2022.1036231 |
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author | Xu, Min Jin, Pengzhen Huang, Yingzhi Qian, Yeqing Lin, Miaochun Zuo, Juan Zhu, Jin Li, Zhaohui Dong, Minyue |
author_facet | Xu, Min Jin, Pengzhen Huang, Yingzhi Qian, Yeqing Lin, Miaochun Zuo, Juan Zhu, Jin Li, Zhaohui Dong, Minyue |
author_sort | Xu, Min |
collection | PubMed |
description | Intracranial hemorrhage is a common complication in preterm infants but occasionally occurs in fetuses. Disruptions of the genes, such as the COL4A1 and COL4A2 genes, are common genetic causes identified in fetal intracranial hemorrhage; however, the disruptions of the JAM3 gene are rarely reported. In the current investigation, fetal intracranial hemorrhage and dilated lateral ventricles were observed in three consecutive siblings in a pedigree. The pregnancies were terminated, and whole-exome sequencing, followed by Sanger sequencing, was performed on the affected fetuses. Pre-implantation genetic testing for monogenic diseases was performed to avoid the recurrence. The compound heterozygous variants of c.712 + 2T > A and c.813C > G p.Tyr271* in the JAM3 gene (NM_032801.4) were identified in the proband and its affected brother, which were predicted to be pathogenic. The variant of c.813C > G p.Tyr271* but not c.712 + 2T > A was identified in the fourth fetus, implying a good prognosis. Our findings expanded the spectrum of the pathogenic mutations in the JAM3 gene and revealed an important application of fetal whole-exome sequencing in idiopathic fetal intracranial hemorrhage. |
format | Online Article Text |
id | pubmed-9629614 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-96296142022-11-03 Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene Xu, Min Jin, Pengzhen Huang, Yingzhi Qian, Yeqing Lin, Miaochun Zuo, Juan Zhu, Jin Li, Zhaohui Dong, Minyue Front Genet Genetics Intracranial hemorrhage is a common complication in preterm infants but occasionally occurs in fetuses. Disruptions of the genes, such as the COL4A1 and COL4A2 genes, are common genetic causes identified in fetal intracranial hemorrhage; however, the disruptions of the JAM3 gene are rarely reported. In the current investigation, fetal intracranial hemorrhage and dilated lateral ventricles were observed in three consecutive siblings in a pedigree. The pregnancies were terminated, and whole-exome sequencing, followed by Sanger sequencing, was performed on the affected fetuses. Pre-implantation genetic testing for monogenic diseases was performed to avoid the recurrence. The compound heterozygous variants of c.712 + 2T > A and c.813C > G p.Tyr271* in the JAM3 gene (NM_032801.4) were identified in the proband and its affected brother, which were predicted to be pathogenic. The variant of c.813C > G p.Tyr271* but not c.712 + 2T > A was identified in the fourth fetus, implying a good prognosis. Our findings expanded the spectrum of the pathogenic mutations in the JAM3 gene and revealed an important application of fetal whole-exome sequencing in idiopathic fetal intracranial hemorrhage. Frontiers Media S.A. 2022-10-19 /pmc/articles/PMC9629614/ /pubmed/36339007 http://dx.doi.org/10.3389/fgene.2022.1036231 Text en Copyright © 2022 Xu, Jin, Huang, Qian, Lin, Zuo, Zhu, Li and Dong. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Xu, Min Jin, Pengzhen Huang, Yingzhi Qian, Yeqing Lin, Miaochun Zuo, Juan Zhu, Jin Li, Zhaohui Dong, Minyue Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene |
title | Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene |
title_full | Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene |
title_fullStr | Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene |
title_full_unstemmed | Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene |
title_short | Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene |
title_sort | case report: prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the jam3 gene |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629614/ https://www.ncbi.nlm.nih.gov/pubmed/36339007 http://dx.doi.org/10.3389/fgene.2022.1036231 |
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