New genetic syndrome discovered in Quebec families

A new genetic syndrome was discovered in a group of families in Quebec with a common ancestor. The syndrome was named MEDNIK to describe the resulting phenotypes – mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia.

The scientists found a new splice mutation in the AP1S1 gene, which encodes a subunit of a complex (AP) responsible for selecting which proteins move within the cell. A zebrafish knockdown model was used to study the loss of the gene’s function further. Injecting the affected larvae with a human normal AP1S1 mRNA restored some phenotypes.

The study is published in PLOS Genetics.