Role of engrailed homeobox 2 (EN2) gene in the development of the cerebellum and effects of its altered and ectopic expressions

Egyptian Journal of Medical Human Genetics

Table 2 Effects of mutation and ectopic expression of EN2 gene

Main findings	Study models	References
EN2 gene mutation results in changes in cerebellar morphology include hypoplasia, abnormal folia and circuitry with a decrease in the number of purkinje cells. These changes are similar to cerebellar changes in the autistic individuals. Overexpression of EN2 gene is appeared in the autistic cerebellum. Two intronic single nucleotide polymorphisms of EN2 gene (rs1861972 and rs1861973) are susceptible case for autism. Disruption of EN2 gene may alter the development of monoamine system and GABAergic interneurons in the brain and may lead to autism	In vivo, in vitro, Mouse, Human	[14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30]
EN2 gene may be expressed ectopically. Ectopic expression of the EN2 gene may result in prostatic cancer, benign prostatic hyperplasia, ovarian tumor, esophageal squamous cell carcinoma and bladder cancer. Whereas its expression plays an anti-oncogenic role in cases of clear cell renal cell carcinoma and non-small cell lung cancer. EN2 can act as a diagnostic marker or therapeutic target in these cases	In vivo, in vitro, Human	[31,32,33,34,35,36]