The Refinement of the Critical Region for the 2q31.2q32.3 Deletion Syndrome Indicates Candidate Genes for Mental Retardation and Speech Impairment

Current literature provides more than 30 patients with interstitial deletions in chromosome 2q31q33. Only a few of them were studied using high-resolution methods. Among these, two patients had presented with a particular consistence of some clinical features associated to a deletion between bands q31.2 and q32.3 of chromosome 2. This clinical pattern, labeled as “2q31.2q32.3 syndrome,” consists of multiple dysmorphisms, developmental delay, mental retardation and behavioural disturbances. We report an adult female patient with a 4.4 Mb deletion in the 2q31.2q32.3 region, showing facial dysmorphisms, mental retardation and absence of speech. The region overlaps with the deletion found in the two cases previously reported. The critical region points to a few genes, namely NEUROD1, ZNF804A, PDE1A, and ITGA4, which are good candidates to explain the cognitive and behavioural phenotype, as well as the severe speech impairment associated with the 2q31.2q32.3 deletion. © 2010 Wiley-Liss, Inc. This article was published online on 15 June 2010. One error was subsequently identified. Acknowledgement section has now been added. This notice is included in the online and print versions to indicate that both have been corrected 14 September 2010.