Novel X-linked Syndrome Identified
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene
Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an in-depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an X-chromosomal neurological disease. The findings were published in Clinical Genetics.