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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  MAP2 , a gene responsible for microtubule polymerization and neurite outgrowth.   Materials and Methods:  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.   Results:  SNP-Array analysis revealed a 1.5 Mb  de novo  microdeletion on the long arm of chromosome 2 (2q34). The identified microdeletion included the candidate genes  UNC80, LANCL1 , and most importantly  MAP2 .   Discussion:  The reported microdeletion identified in this patient is the smallest one described in the literature so far spanning  MAP2  next to  UNC80  and  LANCL1 . In this context  MAP2  is the most important candidate gene concerning neuronal development and its function should be further examined.

MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34