Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.

Autor: Furukawa S; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan., Nomura T; Department of Pediatrics, Kawaguchi Municipal Medical Center, Saitama, Japan., Sumitomo N; Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan., Yoneno S; Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan., Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63453. Date of Electronic Publication: 2023 Oct 23.
DOI: 10.1002/ajmg.a.63453
Abstrakt: 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.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
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