Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.
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ABSTRACT:
SUBMITTER: Greene D
PROVIDER: S-EPMC11333284 | biostudies-literature | 2024 Aug
REPOSITORIES: biostudies-literature
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Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.
Greene Daniel D Thys Chantal C Berry Ian R IR Jarvis Joanna J Ortibus Els E Mumford Andrew D AD Freson Kathleen K Turro Ernest E
Nature medicine 20240531 8
Most people with intellectual disability (ID) do not receive a molecular diagnosis following genetic testing. To identify new etiologies of ID, we performed a genetic association analysis comparing the burden of rare variants in 41,132 noncoding genes between 5,529 unrelated cases and 46,401 unrelated controls. RNU4-2, which encodes U4 small nuclear RNA, a critical component of the spliceosome, was the most strongly associated gene. We implicated de novo variants among 47 cases in two regions of ...[more]
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