Analysis Of Deafness Gene Mutation In Patients With Large Vestibular Aqueduct Syndrome

ObjectiveThe purpose of this study is to identify the characteristics of gene mutations in patients with large vestibular aqueduct syndrome(LVAS)in Yanbian area,and to provide theoretical basis for early detection,diagnosis and intervention of disease.MethodsSix families with LVAS in Yanbian area were selected,three of them were Korean Chinese nationality and three were Han nationality.Each group consisted of 1 proband and their parents,total of 18 people.Peripheral blood specimens were collected from three individual of each family,and the ClaSeek Ligation Max(DNA gne Kit)was used to identify deafness gene,and analysis the deafness gene of LVAS families.Results? Deafness gene mutation of all patients with LVAS were compound heterozygous mutations,and all gene mutations were SLC26A4;? Ofthe6 probands,3 contained c2168A>G(H723R)mutations,2 contained c.919-2 A>G(IVS7-2A>G)mutations,2 contained c.1229 C>T(T410M)mutations,1 contained c.2027 T>A(L676K)mutations,1 contained c.1226 G>A(R409H)mutations,1 contained c.1975 G>C(V659L)mutations,1 contained c.916dupG(V306Gfs*24)mutations,and 1 contained C.1173C>A(S391R)mutations;? The auditory characteristics of the 6 probands were fluctuating or progressive hearing loss,3 oftham were pasted Newbom hearing Screning,and hearing loss was delayedConclusion? The major deafiess gene in LVAS patints Yanbian area was SLC26A4,which was in accordance with the hotspot mutation in East Asians;? he main SLC26A4 ofKorean Chinese nationality LVAS patients in Yanbian area is c.2168 A>G(H723R)and the main that of Han nationality is c.919-2 A>G(IVS7-2 A>G);? Deafness gene diagnosis is helpful for early detection,early diagnosis and early intervention of LVAS patients.