PCDHGC4 : a new gene for a neurodevelopmental disease.

Thanks to a large international collaboration, we have identified 19 patients from 9 families harbouring pathogenic variants in a protocadherine gene called PCDHGC4. This is a new genetic cause for a recessive form of intellectual disability. The Human Neurogenetics team contributed with patients identified using exome sequencing, and signs the paper as co-first author.