国人前庭水管扩大患者SLC26A4基因的特异性突变
Specificity of SLC26A4 Mutations in Chinese Patients with Enlarged Vestibular Aqueduct
赵亚丽;李庆忠;翟所强;兰兰;袁虎;王秋菊;
1:解放军总医院耳鼻咽喉-头颈外科
2:解放军总医院耳鼻咽喉-头颈外科
3:解放军总医院耳鼻咽喉-头颈外科
4:解放军总医院耳鼻咽喉-头颈外科





1Bergoffen J,Scherer SS,Wang S.Connexin mutations in X-linked Charcot-Marie-Tooth disease[J].Science,1993,262:2039.
2Park HJ,Shaukat S,Liu XZ,et al.Origins and frequencies of SLC26A4(PDS)mutations in east and south Asians:global implica-tions forthe epidemiologyof deafness[J].J Med Genet,2003,40:242.
3Everett LA,Glaser B,BeckJC,et al.Pendredsyndromeis caused by mutations in a putative sulphate transporter gene(PDS)[J].Nat Gen-et,1997,17:411.
4Usami S,Abe S,Weston MD,et al.Non-syndromic hearingloss as-sociated with enlarged vestibular aqueduct is caused by PDS mutations[J].HumGenet,1999,104:188.
5Park HJ,Lee SJ,Jin HS,et al.Genetic basis of hearingloss associat-ed with enlarged vestibular aqueducts in Koreans[J].Clin Genet,2005,67:160.
6Tsukamoto K,Suzuki H,Harada D,et al.Distribution and frequencies of PDS(SLC26A4)mutations in Pendred syndrome and nonsyndromic hearingloss associated withenlarged vestibular aqueduct:a unique spec-trumof mutations in Japanese[J].Eur J HumGenet,2003,11:916.
7Borck G,Roth C,Martine U,et al.Mutations in the PDS gene in Germanfamilies with Pendred’s syndrome:V138Fis a founder muta-tion[J].J Clin Endocrinol Metab,2003,88:2916.
8Prasad S,Kolln KA,Cucci RA,et al.Pendred syndrome and DFNB4-mutation screening of SLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations[J].AmJ Med Genet A,2004,124:1.
9Scott DA,Wang R,Kreman TM,et al.Functional differences of the PDSgene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss(DFNB4)[J].Hum Mol Genet,2000,9:1709.
10Van Hauwe P,Everett LA,Coucke P,et al.Twofrequent missense mutations in Pendred syndrome[J].Hum Mol Genet,1998,7:1099.
11Reardon W,Omahoney CF,Trembath R,et al.Enlarged vestibular aqueduct:a radiological marker of pendred syndrome,and mutation of the PDS gene[J].QJM,2000,93:99.
12Campbell C,Cucci RA,Prasad S,et al.Pendred syndrome,DFNB4,and PDS/SLC26A4identificationof eight novel mutations and possible geno-type-phenotype correlations[J].Hum Mutat,2001,17:403.
13Coyle B,Reardon W,HerbrickJ A,et al.Molecular analysis of the PDS gene in Pendred syndrome[J].Hum Mol Genet,1998,7:1105.
14Bogazzi F,Raggi F,Ultimieri F,el al.Anovel mutationinthe pen-drin gene associated with Pendred’s syndrome[J].Clin Endocrinol(Oxf),2000,52:279.
15Fugazzola L,Cerutti N,Mannavola D,et al.Differential diagnosis between Pendred and Pseudo-Pendred syndromes:clinical,radiolog-ic,and molecular studies[J].Pediatric Research,2002,51:479.
16Valvassori GE,Clemis JD.The large vestibular aqueduct syndrome[J].Laryngoscope,1978,88:723.
17李庆忠,王秋菊,韩东一,等.GJB2基因突变始祖效应对中国耳聋人群的影响[J].解放军医学杂志,2005,30:399.
18Yang JJ,Tsai CC,Hsu HM,et al.Hearingloss associated with en-larged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutationinthe PDS gene[J].Hear Res,2005,199:22.
19Coucke PJ,Van Hauwe P,Everett LA,el al.Identification of two different mutations inthe PDS gene in aninbredfamily with Pendred syndrome[J].J Med Genet,1999,36:475.
20Taylor JP,Metcalfe RA,Watson PF,et al.Mutations of the PDS gene,encoding pendrin,are associated with protein mislocalization andloss of iodide efflux:implications for thyroid dysfunction in Pen-dred syndrome[J].J Clin Endocr Metab,2002,87:1778.