Revertant Mosaicism Obscures Long-Awaited Molecular Confirmation of Diamond-Blackfan Anemia.
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RPL35A↗
Biomedical subjects
Nicholas A Borja
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability. Demonstrating loss of ATPase function, we conclude that this novel variant is pathogenic, expanding the phenotype spectrum of ATP1A1.
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