NEUROG1

The NEUROG1 gene, also known as Neurogenin 1, is a Protein Coding gene. It has been linked to specific human phenotypes, particularly in the context of congenital cranial dysinnervation disorders (CCDD) and related conditions. Here are the key points about NEUROG1:

1. Diseases Associated with NEUROG1:

   • Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay: NEUROG1 variants have been identified in individuals with this disorder. Symptoms include absent corneal reflex, developmental delay, and abnormal cranial nerve function1.
   • Cerebellar Liponeurocytoma: While less common, NEUROG1 has also been implicated in cerebellar liponeurocytoma, a rare brain tumor2.

2. Autism Spectrum Disorder (ASD):

   • A recent study in Indian children with autism identified NEUROG1 as playing a role in causing ASD together with cranial dysinnervation syndrome. Genetics contribute to approximately 30% of ASD cases worldwide3.

In summary, NEUROG1 is a fascinating gene associated with both cranial nerve disorders and developmental conditions. Further research may uncover additional insights into its role. 🧬🌟