- A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34.

Microdeletions in the chromosomal region 2q34 and its neighboring regions lead to a phenotypic spectrum including autism, intellectual disability, and epilepsy. Up to now, only few affected patients have been reported. Therefore, the genetic pathogenesis is not completely understood. One of the most discussed candidate genes in this context is , a gene responsible for microtubule polymerization and neurite outgrowth. We present a 4.5-year-old male patient with epilepsy, mild developmental delay, and behavioral abnormalities. SNP-Array analysis was performed to search for pathogenic copy number variations. SNP-Array analysis revealed a 1.5 Mb microdeletion on the long arm of chromosome 2 (2q34). The identified microdeletion included the candidate genes , and most importantly . The reported microdeletion identified in this patient is the smallest one described in the literature so far spanning next to and . In this context is the most important candidate gene concerning neuronal development and its function should be further examined.