Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.
Irina ResmeritaRomica Sebastian CozmaRoxana PopescuLuminita Mihaela RadulescuMonica Cristina PanzaruLacramioara Ionela ButnariuLavinia CabaOvidiu Dumitru IlieEva-Cristiana GavrilEusebiu Vlad GorduzaCristina RusuPublished in: Genes (2020)
We identified two variants: c.109G>A and c.100A>T that have not been reported in any study from Romania. MLPA is an inexpensive, rapid and reliable technique that could be a cost-effective diagnosis method, useful for patients with hearing impairment. It can be adaptable for the mutation spectrum in every population and followed by Sanger sequencing can provide a genetic diagnosis for patients with different degrees of hearing impairment.