Intracranial hemorrhage is a common complication in preterm infants but occasionally occurs in fetuses. Disruptions of the genes, such as the and genes are common genetic causes identified in fetal intracranial hemorrhage; however, the disruptions of the 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 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 gene and revealed an important application of fetal whole-exome sequencing in idiopathic fetal intracranial hemorrhage.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629614 | PMC |
http://dx.doi.org/10.3389/fgene.2022.1036231 | DOI Listing |
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