Variants in the NEUROG1 gene are associated with cranial dysinnervation disorder. The NEUROG1, is a single exon gene encoding NGN1 protein, a transcription factor. It is involved in the process of neurogenesis, particularly in determining the fate of proximal cranial sensory ganglia for trigeminal/ cranial nerve V and vestibulocochlear/ cranial nerve VIII.
The recurrent clinical features observed include global developmental delay, ataxia, hearing loss, absent corneal reflex, cochlear and auditory canal abnormality.
Neuroimaging findings include aplasia/ hypoplasia of cranial nerve VIII which is a characteristic feature of this condition along with aplasia/ hypoplasia of cranial nerve V, cochlear and auditory canal abnormalities.
This is a novel syndrome with only four cases reported globally. All individuals presented during the childhood period with a clinical impression of autism. All four cases showed homozygous variants in the NEUROG1 gene suggesting an autosomal recessive inheritance. Hence, parents of these children are likely to be heterozygote carriers. Children of parents with a confirmed carrier status have 25% chance of being healthy/ wildtype; 25% chance of being affected and 50% chance of being carriers.
NEUROG1