ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

ABSTRACT: Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in characteristic syndromic presentations; however, at least half of these patients lack a genetic diagnosis. The implementation of machine learning approaches has the potential to aid in the identification of new disease genes and delineate associated phenotypes. Next generation sequencing was performed in seven affected individuals with neurodevelopmental delay and dysmorphic features. Clinical characterization included reanalysis of available neuroimaging datasets and 2D portrait image analysis with GestaltMatcher. The functional consequences of ZSCAN10 loss were mod

SUBMITTER: Laugwitz L 

PROVIDER: S-EPMC11224597 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature