Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Am J Med Genet A
; 194(3): e63453, 2024 Mar.
Article
em En
| MEDLINE
| ID: mdl-37870493
ABSTRACT
ATP1A2 encodes a subunit of sodium/potassium-transporting adenosine triphosphatase (Na+ /K+ -ATPase). Heterozygous pathogenic variants of ATP1A2 cause familial hemiplegic migraine, alternating hemiplegia of childhood, and developmental and epileptic encephalopathy. Biallelic loss-of-function variants in ATP1A2 lead to fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, resulting in fetal death. Here, we describe a patient with compound heterozygous ATP1A2 variants consisting of missense and nonsense variants. He survived after birth with brain malformations and the fetal akinesia/hypokinesia sequence. We report a novel type of compound heterozygous variant that might extend the disease spectrum of ATP1A2.
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Base de dados:
MEDLINE
Assunto principal:
Enxaqueca com Aura
/
Microcefalia
Limite:
Humans
/
Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article