RNU4-2 variant map uncovers two distinct neurodevelopmental disorders
TL;DR
Researchers used saturation genome editing to comprehensively map all possible variants in the 145‑nucleotide RNU4-2 snRNA, defining a central 18‑nucleotide region where mutations drive dominant ReNU syndrome and revealing four other regions whose depletion links to a separate recessive neurodevelopmental disorder, thereby enabling improved diagnosis and insights into underlying mechanisms and pleiotropy within this noncoding RNA.
Topics:healthscience#dominant-vs-recessive-disorders#renu-syndrome#rnu4-2#saturation-genome-editing#science#spliceosome
- Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders Nature
- Scientists Have Found a New Neurodevelopmental Disorder Hidden in Our Genes ScienceAlert
- Mapping mutations at scale in a single gene reveals new neurodevelopmental condition Medical Xpress
- Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder Nature
- Researchers uncover how changes in a non-coding gene cause multiple neuro-developmental disorders genomicsengland.co.uk
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