Deafness gene mutations in newborns in Beijing.

ObjectiveTo determine the incidence of congenital hearing loss (HL) in newborns by the rate of deafness-related genetic mutations.DesignClinical study of consecutive newborns in Beijing using allele-specific polymerase chain reaction-based universal array.Study sampleThis study tested 37 573 newborns within 3 days after birth, including nine sites in four genes:GJB2(35 del G, 176 del 16, 235 del C, 299 del AT),SLC26A4(IVS7-2 A > G, 2168 A > G),MTRNR1(1555 A > G, 1494 C > T), andGJB3(538 C > T). The birth condition of infants was also recorded.ResultsOf 37 573 newborns, 1810 carried pathogenic mutations, or 4.817%. The carrier rates ofGJB2(35 del G, 176 del 16, 235 del C, 299 del AT),GJB3(538 C > T),SLC26A4(IVS7-2 A > G, 2168 A > G), andMTRNR1(1555 A > G, 1494 C > T) mutations were 0.005%, 0.104%, 1.924%, 0.551%, 0.295%, 0.253%, 1.387%, 0.024%, and 0.274%, respectively. Logistic regression analysis indicated no statistically significant relationship between mutations and infant sex, premature delivery, twin status, or birth weight.ConclusionsThe 235delCGJB2mutation was the most frequent deafness-related mutation in the Chinese population. Genetic screening for the deafness gene will help detect more cases of newborn congenital HL than current screening practices. [ABSTRACT FROM PUBLISHER]