P561: Expanding the genotypic spectrum for ReNU syndrome: A clinical laboratory experience*

Genetics in Medicine Open 2026 Open access

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Authors: Eileen E. Barr, Morgan N. Driver, Robert Rigobello, Leah Campbell, Lisa Salz, Matthew Walsh, Xi LUO, Wilson CW. Wu, Bo Yuan, Teresa Sim, Liesbeth Vossaert, Xiaonan Zhao
+4 more Jason Chibuk, Linyan Meng, Fan Xia, Christine Eng
DOI: 10.1016/j.gimo.2026.104052
Cited by: 0

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.

Fields of Study & Subjects

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104052–104052
Publication date
1 January 2026
Language
EN