Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.

ABSTRACT: 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 a

SUBMITTER: Mattioli F 

PROVIDER: S-EPMC8586153 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature