ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

ABSTRACT: ITSN1 plays an important role in brain development. Recent studies in large cohorts of subjects with neurodevelopmental disorders have identified de novo variants in ITSN1 gene thereby suggesting that this gene is involved in the development of such disorders. The aim of this study is to provide further proof of such a link. We performed trio exome sequencing in a patient presenting autism, intellectual disability, and severe behavioral difficulties. Additional affected patients with a neurodevelopmental disorder harboring a heterozygous variant in ITSN1 (NM_003024.2) were collected through a worldwide collaboration. All patients underwent detailed phenotypic and genetic assessment and data was collected and shared by healthcare givers. We identified ten novel patients from eight families

SUBMITTER: Bruel AL 

PROVIDER: S-EPMC8738743 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature