Sensorineural hearing loss among the newborns in Menoufia Governorate, Egypt: prevalence and genetic analysis

Abstract Aim This study aimed to assess neonatal sensorineural hearing loss (SNHL) in newborns in Menoufia Governorate, Egypt, who underwent an extended hearing loss screening program, focusing on prevalence, types, and genetic analysis. Patients and methods This study was conducted on 3500 Egyptian newborn infants who came to the family health care units in Menoufia Governorate for routine neonatal hearing screening tests, including 1st and 2nd otoacoustic emissions (OAE). A diagnostic auditory brainstem response (ABR) test was performed on the neonates who failed to pass the 2nd OAE screening test with a REFER result. Whole exome sequencing (WES) was performed on the neonates with sensorineural hearing loss (SNHL). Results The referral rate after the first time OAE was 5.1%, while after the second time, it was 0.4%. Most referred cases were bilaterally affected in both tests. Due to otitis media with effusion, conductive hearing loss was detected in 6 neonates (0.17%). Sensorineural hearing loss was identified in two newborns (0.05%). WES revealed a homozygous pathogenic variant in the SLC26A4 gene (c.1198delT: p.Cys400ValfsTer32) in one neonate and a homozygous variant of uncertain significance in the MYO5C gene (c.1322C>T: p.Thr441Ile) in the other one. Conclusion Sensorineural hearing loss constitutes 0.05% of the Egyptian neonates in Menoufia Governorate. Genetic variants in the SLC26A4 and MYO5C genes represent the possible genetic causes of SNHL in the two affected newborns.