非综合征型聋患儿SLC26A4基因突变分析
Analysis of the Mutations in SLC26A4 Gene in Children with Non-syndromic Hearing Loss
戴翔;李隽;胡晞江;童静;向萍霞;刘翎;冷培;
1:武汉市妇女儿童医疗保健中心生殖医学实验室
2:武汉市妇女儿童医疗保健中心耳鼻咽喉科
1 刘学忠,欧阳小梅,Denise Y,等.中国人群遗传性耳聋研究进展[J].中华耳科学杂志,2006,4:81.
2 Smith RJ.Clinical application of genetic testing for deafness[J].Am J Med Genet A,2004,130(A):8.
3 Azaiez H,Yang T,Prasad S,et al.Genotype-phenotype cor-relation for SLC26A4-related deafness[J].Hum Genet,2007,122:451.
4 Coyle B,Reardon W,Herbrick JA,et al.Molecular analysisof the PDS gene in Pendred syndrome[J].Hum Mol Genet,1998,7:1 105.
5 袁永一,王国建,戴朴,等.大前庭水管相关SLC26A4基因热点突变区域筛查方案探讨[J].中华耳科学杂志,2010,8:292.
6 Scott DA,Wang R,Kreman TM,et al.The Pendred syn-drome gene encodes a chloride-iodide transport protein[J].Nat Genet,1999,21:440.
7 Wangemann P.The role of Pendrin in the development of themurine inner ear[J].Cell Physiol Biochem,2011,28:527.
8 Wang QJ,Zhao YL,Rao SQ,et al.A distinct spectrum ofSLC26A4mutations in patients with enlarged vestibular aque-duct in China[J].Clin Genet,2007,72:245.
9 Campbell C,Gucci RA,Prasad S,et al.Pendred syndromeand possible genotype-phenotype correlations[J].Hum Mu-tat,2001,17:403.
10 Wu CC,Yeh TH,Chen PJ,et al.Prevalent SLC26A4muta-tions in patients with enlarged vestibular aqueduct and/ormondini dysplasia:a unique spectrum of mutations in Tai-wan,including a frequent founder mutation[J].Laryngo-scope,2005,115:1 060.
11 Park HJ,Shaukat S,Liu XZ,et al.Origins and frequenciesof SLC26A4(PDS)mutations in east and south Asians:glob-al implications for the epidemiology of deafness[J].J MedGenet,2003,40:242.
12 Lu YC,Wu CC,Shen WS,et al.Establishment of a knock-in mouse model with the SLC26A4c.919-2A>G muta-tion and characterization of its pathology[J].PloS One,2011,6:e22 150.
13 Yang JJ,Tsai CC,Hsu HM,et al.Hearing loss associatedwith enlarged vestibular aqueduct and Mondini dysplasia iscaused by splice-site mutation in the PDS gene[J].HearRes,2005,199:22.
14 李隽,历建强,王秋菊,等.678例新生儿听力和聋病易感基因联合筛查结果分析[J].听力学及言语疾病杂志,2010,18:419 .
15 Ito T,Choi BY,King KA,et al.SLC26A4genotypes andphenotypes associated with enlargement of the vestibular aq-ueduct[J].Cell Physiol Biochem,2011,28:545.
16 Lang F,Vallon V,Knipper M.Functional significance ofchannels and transporters expressed in the inner ear and kid-ney[J].Am J Physiol Cell Physiol,2007,293:1 187.