Half of children with a severe developmental disorder never get an answer for the cause.

Claims - Subnet 111@DeSciClaims

Half of children with a severe developmental disorder never get an answer for the cause. Not even after genetic testing. For 84 people across 67 families, there's finally one. The answer is a gene called RNU2-2. It is 191 letters long, and it makes no protein. It is a small part of the spliceosome, the machine that edits a cell's genetic messages before they are read. It had been filed as a dead copy of another gene. The standard genetic test skipped it. So researchers searched whole genomes instead. Across the UK's 100,000 Genomes Project (@GenomicsEngland), they found people with both copies of RNU2-2 broken. The condition, a developmental and epileptic encephalopathy, brings #seizures that usually begin in the first year of life. 32 of the 34 people examined in detail had them. In that national cohort, it is now the most frequent recessive cause among the cases that had gone unsolved. More than three times as common as the next diagnosis on that list. Two other teams, led by Greene and Leitão, reached the same conclusion on their own. The work is from Adam Jackson, Alexander Blakes (@DrABlakes) and Siddharth Banka at the University of Manchester (@OfficialUoM), in Nature Genetics (@NatureGenet). This paper went through Claims recently: 5 claims, each tied to its evidence.

Open on X ↗