Assessment Of The Curative Effective Of CI And The Genotype-phenotype Association Of EVAS

Hearing loss is one of the most common birth defects that can be thebarrier of communication.60%of the disorder was due to the genetic factors.With the development ofmolecular genetics, an increasing number molecularetiologyofcongenital hearing loss was definited. The two parts of study of thegenotype-phenotype association of hearing loss were performed for goodadvantages of the achievements of the genetics, offering the clinic assistanceand provide bases forthe further exploring of the mechanism of hearing loss.Part one: Assessment of the Curative Effective of CI.ObjectTo analyze the curative effect of CI in patients with autosomalrecessiveNSHI, including GJB2(Cx26) and SLC26A4gene mutations.Method The evaluations of curative effect include auditory thresholdwith Cl. Thepostoperative outcomes of these cases with autosomal recessiveNSHI were comparedpatients with negative results of screening of genemutation (control group).ResultThe postoperative outcomes of CI with GJB2and SLC26A4gene mutations hadnosignificant difference in comparison with control group (P>0.05).Conclusion CIcould be performed in the patients withGJB2and SLC26A4genemutation.Postoperative outcomes of hearing and speech in the patients with GJB2and SLC26A4genemutations were satisfied.Part two: The Genotype-Hearing Association of EVAS.ObjectSeek for the genotype-hearing association ofEVAS.Method A total of1087unrelated non-syndromic hearing loss patients with innerear malformation were included. Complete sequence of SLC26A4wasdeterminated forevery samaple. Auditory was evaluation for every one. Result28types of causative mutations of SLC26A4were detected, and most areIVS7-2A>G and c.2168A>G.ConclusionSLC26A4gene mutations were closely related to malformationswithEVAS.