|
Abstract
【Abstract】 Objective To analyze the genetic screening results of hereditary deafness in the neonatesof neonatal intensive care unit (NICU) and explore the clinical value of genetic deafness gene chip inhereditary deafness screening in NICU neonates. Methods This study enrolled 3 728 NICU neonates.Nine deafness-related gene mutations detection kit(microarray chip) were used to screen 4 common deafnessgene mutations in NICU neonates. Results In 3 728 NICU neonates, 180 cases had deafness genemutations (4.82%). Of these, 103 cases(2.76%)were GJB2 mutations, 8 cases(0.21%)were GJB3 538C>T mutations, 58 cases(1.55%)were SLC26A4 mutations, 7 cases(0.19%)were mtDNA 12SrRNA genemutations, 1 case was compound heterozygous mutations of GJB2 176_191 del 16/235 del C, 1 case wasGJB2 235 del C/SLC26A4 IVS7-2A>G double heterozygous mutations and 2 cases were of GJB2 235del C/ mtDNA 12SrRNA 1555A>G double heterozygous mutations. Conclusion Because NICUneonates are at high risk of deafness, deafness gene screening is of great value in preventing deafness,especially drug-sensitive deafness.
|
2020, Vol. 8 
