RNU2-2 syndrome

RNU2-2 syndrome is a neurodevelopmental disorder caused by de novo variants in the human gene RNU2-2, which encodes an RNA component of the major spliceosome. It is characterized by epilepsy, intellectual disability, autistic behavior, microcephaly, hypotonia and hyperventilation, and OMIM also lists it as autosomal dominant developmental and epileptic encephalopathy type 119. The syndrome is autosomal dominant. Most cases are explained by the single nucleotide variants n.4G>A and n.35A>G in roughly equal proportions; the first is thought to disrupt the pairing of the U2 small nuclear RNA with the U6 RNA, and the second its interaction with intron branch sites. The syndrome was identified independently by statisticians Daniel Greene and Ernest Turro at the Icahn School of Medicine at Mount Sinai and by geneticists Adam Jackson and Siddharth Banka at the University of Manchester.