New genetic syndrome discovered in Quebec families
December 8, 2008 by Grace Ibay
Filed under Genes, Genetic Diseases and Conditions, Mental health and Behavior
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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.
