Screening for hearing loss and deafness-related genes in newborns / 中华全科医师杂志

ABSTRACT

To screen the hearing loss and deafness-related genes in newborns,the screenings for hearing loss and the mutations of common deafness-related genes were performed among 8 187 infants born in Shaoxing Maternal and Child Health Care Hospital from August 2013 to November 2014.Twenty mutation spots in deafness-related genes GJB2,GJB3,12SrRNA and SLC26A4 were detected with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS).Of 8 187 newborns,hearing loss was confirmed in 10 cases,and mutations in deafness-related genes were detected in 441 cases with a detection rate of 5.39％.Among 441 cases with positive gene mutations,there were 243 cases with GJB2 mutations (2.97％).147 cases with SCL26A4 mutations (1.80％),43 cases with GJB3 mutations (0.53％) and 15 cases with mutations of mitochondrial gene 12SrRNA (0.18％).The spot of highest detection frequency was GJB2 235delC (2.31％),followed by SCL26A4 IVS72A ＞ G (1.31％).The deafness gene detection rate for newborns who did not pass the hearing tests (8.16％,79/968) was higher than these who passed (5.01％,362/7 219;x2 =10.978,P ＜0.05).Five of 10 newborns with hearing loss were detected carrying deafness genes.The detection rate of the common deafness genes among the newborns is relatively high in this region.Screening for hearing loss and deafness gene may contribute to early diagnosis and intervention,and also to long-term precaution for those carrying heterozygosity deafness genes.