De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.
Am J Med Genet A
; 191(7): 1973-1977, 2023 07.
Article
em En
| MEDLINE
| ID: mdl-37102432
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Hemorragia Cerebral
/
Leucoencefalite Hemorrágica Aguda
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Child
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Female
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Humans
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Itália