Abstract
The present study describes the case of a male child with severe congenital sensorineural hearing loss, which was associated with premature birth and a rare variant of the SPEN gene. Furthermore, a review of the literature was performed to compile the reported clinical and genetic data. The present case is of a premature child with severe and complex postnatal clinical issues (very low birth weight, low Apgar score, neonatal intensive care unit admission, respiratory distress syndrome and the need for respiratory support) who possessed a novel variant of the SPEN gene (discovered by whole exome sequencing), which was inherited from a healthy father, and severe congenital bilateral sensorineural hearing loss. This SPEN gene variant was classified as having unknown significance. The patient presented some of the typical features of Radio-Tartaglia syndrome, including global developmental delay, autistic behavior and an abnormal corpus callosum. The present study assessed the role of the identified SPEN gene variant in the phenotype of the child, together with the effect of prematurity on their development and the presence of hearing loss. The case brings novel insights into a rare genetic syndrome. Although the role of this SPEN variant in hearing impairment is not clear it is difficult to predict the effect of this variant on the patient phenotype. Functional studies or reports of other cases with this variant could contribute to a better classification of this gene variant.