De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.
RANBP2
acute necrotizing encephalopathy
fetal intracranial hemorrhage
intrauterine demise
prenatal diagnosis
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
received:
23
11
2022
accepted:
18
04
2023
medline:
8
6
2023
pubmed:
27
4
2023
entrez:
27
4
2023
Statut:
ppublish
Résumé
Fetal intracranial hemorrhage (ICH) may result from a wide array of causes, either associated with maternal or fetal risk factors. In the last decade, monogenic causes of susceptibility to fetal ICH have been described, in particular in association with COL4A1 and COL4A2 genes. A peculiar form of ICH is acute necrotizing encephalitis (ANE), which is characterized by a rapid-onset severe encephalopathy following an abnormal inflammatory response to an otherwise banal infection. It usually affects healthy children and it is thought to be multifactorial, with a genetic predisposition. RANBP2 gene has been extensively associated with ANE susceptibility. We hereby present a unique case of a 42-year-old secundigravida with intrauterine fetal demise at 35 weeks of gestation. Trio-based whole-exome sequencing performed on both parents and fetal DNA showed a de novo likely pathogenic variant in the RANBP2 gene on 2q13. At the fetal autopsy, subtentorial hematoma and cerebral intraparenchymal hemorrhage were present. We speculate that this might be a new phenotypic presentation of RANBP2-associated disease. However, more similar fetal cases need to be reported in order to reinforce this hypothesis.
Identifiants
pubmed: 37102432
doi: 10.1002/ajmg.a.63223
doi:
Substances chimiques
ran-binding protein 2
0
Molecular Chaperones
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1973-1977Informations de copyright
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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