Deafness Gene Screening and AABR in Children Hearing Loss Diagnose / 听力学及言语疾病杂志

ABSTRACT

Objective The aim of this study was to find out the carrying rate and the type of mutation of children deafness gene and discuss the significance of combined screening of deafness gene and hearing screening.Methods From October 2015 to December 2016,a total of 505 children from primary screening institutions were done with AABR hearing re-screening and deafness gene through blood filter paper by heel for gene sequencing at the hearing screening clinic of Hefei Maternal and Child Health Hospital.The 9 mutation sites of deafness genes included GJB2 (235delC,299delAT,176del16,35delG),GJB3 (538C＞T),SLC26A4 (IVS7-2A＞G,2168A＞G) and mitochondrial 12SrRNA (1555A＞G,1494C＞T).Results There were 69 children with deafness susceptibility genes in 505 cases and its overall carrying rate was 13.7％.There were 56 cases (81.16％)with GJB2 gene mutations,10 cases (14.49％) with SLC26A4 gene mutations,and 3 patients (4.35％) with mitochondrial 12SrRNA gene mutations.GJB3 gene mutations wer not detected.There were 376 who failed AABR rescreening out of 505.The total failure rate for AABR rescreening was 74.46％.Thirty-seven cases were examined with ABR out of 69 cases with deafness gene abnormal.32 cases (86.49％) had different degrees of hearing impairment.Conclusion GJB2 gene mutation was the highest carrying rate of deafness genes in this region,followed by SLC26A4 gene,less mitochondrial 12SrRNA gene mutations while GJB3 gene mutations was not detected.Hereditary deafness gene screening was a valid supplement for physical screening,the combination of both methods was helpful for early detection and intervention of deaf children.