Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.
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11 novembre 2021
- doi: 10.1038/s41525-021-00255-z
- issn: 2056-7944
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Units of inheritance Units of heredity Family Family structure Families--Social aspects Families--Social conditions Family life Structure, Family Family relationships Relationships, Family Physical handicaps Handicaps Disabling conditions Impairment Physical disabilities DisabilityCiter ce document
F. Mattioli et al., « Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder. », Serveur académique Lausannois, ID : 10.1038/s41525-021-00255-z
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Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected individuals still remain without a molecular diagnosis. Consanguineous families with affected individuals provide a unique opportunity to identify novel recessive causative genes. In this report, we describe a novel autosomal recessive neurodevelopmental disorder. We identified two consanguineous families with homozygous variants predicted to alter the splicing of ATP9A which encodes a transmembrane lipid flippase of the class II P4-ATPases. The three individuals homozygous for these putatively truncating variants presented with severe ID, motor and speech impairment, and behavioral anomalies. Consistent with a causative role of ATP9A in these patients, a previously described Atp9a-/- mouse model showed behavioral changes.