Discovery Of A Debilitating Genetic Syndrome

ScienceDaily (Dec. 8, 2008) — Canadian researchers announce the discovery of MEDNIK Syndrome, a debilitating genetic syndrome. A research team led by Dr. Patrick Cossette, from the Université de Montréal Hospital Research Centre (CRCHUM) and Associate Professor, Université de Montréal (U de M), has demonstrated that this syndrome is caused by a newly found mutation in the AP1S1 gene.

MEDNIK syndrome was discovered in a group of families in Quebec from the Kamouraska region, sharing a common ancestor, suspected from clinical manifestations showing striking similarities to those of a similar syndrome. Caused by a mutation in the AP1S1 gene, this syndrome is characterized by mental retardation, enteropathy, deafness, and peripheral neuropathy, ichthyosis, and keratodermia (MEDNIK).

''Our observations strongly suggest that MEDNIK Syndrome is caused by impaired development of various neural networks, including the spinal chord (ataxia and neuropathy), the inner ear (sensorineural deafness) and possibly the brain (microcephaly and psychomotor retardation)," notes Dr. Cossette. ''Disruption of the AP1S1 gene in humans may be associated with more widespread perturbation in the development of various organs, including the gut and the skin.

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