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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 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.

SUBMITTER: Mattioli F 

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

REPOSITORIES: biostudies-literature

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

Mattioli Francesca F   Darvish Hossein H   Paracha Sohail Aziz SA   Tafakhori Abbas A   Firouzabadi Saghar Ghasemi SG   Chapi Marjan M   Baig Hafiz Muhammad Azhar HMA   Reymond Alexandre A   Antonarakis Stylianos E SE   Ansar Muhammad M  

NPJ genomic medicine 20211111 1

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 neurodevelopmenta  ...[more]

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