Biallelic variants in the NEUROG1 gene have been associated with NEUROG1-related cranial dysinnervation disorder.
Whole gene deletion, nonsense, frameshift and missense variants in the homozygous state have been identified.
This is a single exon gene and genetic testing can be carried out by Sanger sequencing in cases confirmed with aplastic/ hypoplastic cranial nerve VIII and/or cranial nerve V on CT and/ or MRI of temporal bones.
However, in absence of the CT and MRI report, an NGS-based exome sequencing can be carried out.
The following table shows all reported variants till date in the NEUROG1 gene
