3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

This article reports on the first clinical delineation of 3q28q27.3 interstitial deletions, by the description of 7 patients gathered through the Decipher database. Affected patients present with a recognisable dysmorphism and marfanoïd habitus, psychotic troubles and intellectual disability. The deleted region encompasses candidate genes, including SST for the neuropsychiatric findings; and AHSG, encoding a secreted protein implicated in the TGFb signalling pathway for the marfanoïd habitus. Interactive web-based databases such as Decipher are an essential tool for sharing data and clinical experience on very rare disorders. (By Dr. Julien Thevenon, http://jmg.bmj.com/content/early/2013/10/16/jmedgenet-2013-101939 )