A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

Intellectual disability (ID) is a common disability in humans and comprises both isolated forms as well as forms that are associated with a constellation of other clinical problems i.e. syndromic ID.  In this study, we describe an apparently novel syndromic ID in which patients have decreased sweating and brittle teeth.  Using positional cloning techniques in combination with next-generation sequencing, we identified a mutation in COG6 as the likely cause.  Interestingly, a previous report described a mutation in COG6 in a patient with congenital disorder of glycosylation, something we did not observe in the patients in this study.  Additional COG6 mutations are needed to establish the exact phenotype associated with COG6 deficiency in humans. (By Dr Fowzan S Alkuraya, http://jmg.bmj.com/content/early/2013/04/19/jmedgenet-2013-101527 )