Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

ABSTRACT:

Background

We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder.

Methods

Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the impact of novel missense variants with respect to ATPase and helicase activity, stress granule (SG) formation, global translation, and their effect on embryonic development in zebrafish. SG formation was additionally analyzed in CRISPR/Cas9-mediated DHX30-deficient HEK293T and zebrafish models, along with in vivo behavioral assays.

Results

We identified 25 previously unreported individuals, ten of whom carry novel variants, two

SUBMITTER: Mannucci I 

PROVIDER: S-EPMC8140440 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature