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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....

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Autores principales: Xu, Min, Jin, Pengzhen, Huang, Yingzhi, Qian, Yeqing, Lin, Miaochun, Zuo, Juan, Zhu, Jin, Li, Zhaohui, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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.
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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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