Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

ABSTRACT: Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have been described in only six individuals carrying five biallelic predicted loss-of-function (pLOF) variants. To define the phenotypic effects of RBL2 mutations in detail, we identified and clinically characterized a cohort of 35 patients from 20 families carrying pLOF variants in RBL2, including 15 new variants that substantially broaden the molecular spectrum. The clinical presentation of affected individuals is characterized by a range of neurological and developmental abnormalities. Global developmental delay and i

SUBMITTER: Aughey GN 

PROVIDER: S-EPMC11967543 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature