Article

Biallelic truncation variants in <i>ATP9A</i> are associated with a novel autosomal recessive neurodevelopmental disorder

2021-06-04

Abstract excerpt

<h4>ABSTRACT</h4> 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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cbba5608-4924-54dd-9bdc-d9f744e3acde
DOI: 10.1101/2021.05.31.21257832

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Biallelic truncation variants in <i>ATP9A</i> are associated with a novel autosomal recessive neurodevelopmental disorderDOI 10.1101/2021.05.31.21257832Read

The Role of ATP9A (c.1091G>C; p.(Arg364Thr)) Variant in Cognitive Impairment: Diagnostic Insight from Whole Exome SequencingSemantic proximity Read

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of<i>ATP8A2</i>-related disorders caused by missense changesSemantic proximity Read

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in<i>VCP</i>Semantic proximity Read

Biallelic loss of function variants in<i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeSemantic proximity Read

Bi-allelic loss-of-function variants in <i>PPFIBP1</i> cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcificationsSemantic proximity Read

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSemantic proximity Read

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.Semantic proximity Read

Whole exome sequencing reveals a mutation in <i>ARMC9</i> as a cause of mental retardation, ptosis and polydactylySemantic proximity Read

Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.Semantic proximity Read

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeSemantic proximity Read

Pathogenic <i>MAPK8IP3</i> variants drive distinct motor and behavioral phenotypes in humans and miceSemantic proximity Read

Congenital ataxia due to novel variant in ATP8A2.Semantic proximity Read