The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
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View abstract on PubMed
Summary
This summary is machine-generated.FARIMPD syndrome, caused by ATP1A2 gene variants, is lethal in the homozygous state but compatible with survival in heterozygous states. This study identified a novel homozygous nonsense variant explaining early infant deaths.
Area Of Science
- Genetics
- Molecular Biology
- Developmental Biology
Background
- FARIMPD (Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies) syndrome is a rare and severe genetic disorder.
- Limited clinical and molecular understanding of FARIMPD syndrome hinders diagnosis and treatment.
- ATP1A2 gene variants are the known cause of FARIMPD syndrome.
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