Neurological Phenomenology of the IRF2BPL Mutation Syndrome: Analysis of a New Case and Systematic Review of the Literature

IRF2BPL is an intronless gene (also known as EAP1 or c14orf4) that was mapped in the 2000 on chromosome 14q24.3 [1]. This gene codes for the 796 amino acids-long interferon regulatory factor 2 binding-like protein, which is expressed in multiple human tissues, including the brain. Albeit its functions are largely unknown, several preclinical and clinical studies have suggested a possible role in neuronal development and homeostasis [2], transcription of the gonadotropin-releasing hormone [3], modulation of the ubiquitin-proteasome pathway (UPS) [4] and ubiquitination and degradation of β-catenin in gastric cancer [5].

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