P561: Expanding the genotypic spectrum for ReNU syndrome: A clinical laboratory experience*
Year: 2026
Type: conference-abstract
Abstract: ReNU syndrome, caused by pathogenic variants in the RNU4-2 snRNA gene, is an autosomal dominant neurodevelopmental disorder described in 2024. It is associated with global developmental delays, intellectual disability, seizures, hypotonia, microcephaly, and other features such as short stature, visual impairment, and gastrointestinal issues. Recent literature suggests that ReNU syndrome is emerging as one of the most prevalent causes for neurodevelopmental disorders (NDDs), estimated to account for approximately 0.4% of NDDs.
Source: Genetics in Medicine Open
Institutions: Baylor Genetics, Baylor College of Medicine
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W7133911984