Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Identifying the most common genetic cause of recessive neurodevelopmental disorders could dramatically improve diagnosis for the half of affected families still seeking answers.
This Nature Genetics paper identifies biallelic variants in the RNU2-2 gene as the single most common known cause of recessive neurodevelopmental disorders, affecting roughly 10% of families with a recessive NDD that can be diagnosed by sequencing. The discovery reveals a loss-of-expression mechanism and immediately expands the diagnostic yield for the ~50% of NDD patients who currently lack a genetic diagnosis.
What the study was
- Study design
- Genetic association study with replication cohorts
- Population
- Individuals with undiagnosed neurodevelopmental disorders
- Sample size
- 18 probands + 5 affected siblings (primary) + 13 candidates + 9 replication
- Category
- Genomics/Precision Medicine
- Maturity
- Validated
- Journal
- Nature Genetics
Why it surfaced
First identification of a recessive RNU2-2 syndrome as the most prevalent known recessive NDD. Immediately diagnosable by sequencing with clear clinical utility.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.