A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature

Thrombospondin type laminin G domain and epilepsy associated repeats mutation presenting solely with hearing issues and lack of any ectodermal dysplasia was rare based on the review of previously reported cases. Given the high importance of these genetic disorders and the burden associated with them, the family members of these patients should pursue molecular genetic tests to identify the carriers and eliminate the risk of future occurrence of these phenotypes.