95例前庭水管扩大核心家系SLC26A4基因特异突变图谱
A Distinct Spectrum of SLC26A4 Mutations in 95 Nuclear Families Associated with Enlarged Vestibular Aqueduct
赵亚丽;王秋菊;李庆忠;兰兰;袁虎;纵亮;韩明鲲;王大勇;翟所强;
1:解放军总医院耳鼻咽喉-头颈外科 解放军耳鼻咽喉科研究所
2:中国医学科学院中国协和医科大学基础医学研究所医学分子生物学国家重点实验室
3:解放军总医院耳鼻咽喉-头颈外科
4:解放军耳鼻咽喉科研究所
1 Mafong DD,Shin EJ,Lal wani AK.Use of laboratory evalua-tion and radiologic i magingin the diagnostic evaluation of chil-dren with sensorineural hearingloss[J].Laryngoscope,2002,112:1.
2 Wu CC,Chen YS,Chen PJ,et al.Common clinical features of children with enlarged vestibular aqueduct and Mondini dys-plasia[J].Laryngoscope,2005,115:132.
3 Griffith AJ,Arts A,Downs C,et al.Familial large vestibular aqueduct syndrome[J].Laryngoscope,1996,106:960.
4 Abe S,Usami S,Hoover DM,et al.Fluctuating sensorineural hearingloss associated with enlarged vestibular aqueduct maps to7q31,the region containing the Pendred gene[J].Am J Med Genet,1999,82:322.
5 Usami S,Abe S,Weston MD,et al.Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations[J].Hum Genet,1999,104:188.
6 Everett LA,Morsli H,Wu DK,et al.Expression pattern of the mouse ortholog of the Pendred's syndrome gene(PDS)suggests a key role for pendrinin the inner ear[J].Proc Natl Acad Sci USA,1999,96:9727.
7 Taylor JP,Metcalfe RA,Watson PF,et al.Mutations of the PDS gene,encoding pendrin,are associated with protein mis-localization and loss of iodide efflux:i mplications for thyroid dysfunction in Pendred syndrome[J].J Clin Endocrinol Metab,2002,87:1778.
8 Campbell C,Cucci RA,Prasad S,et al.Pendred syndrome,DFNB4,and PDS/SLC26A4identification of eight novel muta-tions and possible genotype-phenotype correlations[J].Hum Mutat,2001,17:403.
9 Blons H,Feldmann D,Duval V,et al.Screening of SLC26A4(PDS)gene in Pendred's syndrome:a large spectrumof muta-tions in France and phenotypic heterogeneity[J].Clin Genet,2004,66:333.
10 Park HJ,Lee SJ,Jin HS,et al.Genetic basis of hearingloss associated with enlarged vestibular aqueducts in Koreans[J].Clin Genet,2005,67:160.
11 Tsukamoto K,Suzuki H,Harada D,et al.Distribution and frequencies of PDS(SLC26A4)mutations in Pendred syn-drome and nonsyndromic hearing loss associated with en-larged vestibular aqueduct:a unique spectrumof mutationsin Japanese[J].Eur J Hum Genet,2003,11:916.
12 Coyle B,Reardon W,Herbrick JA,et al.Molecular analysis of the PDS gene in Pendred syndrome[J].Hum Mol Genet,1998,7:1105.
13 Pryor SP,Madeo AC,Reynolds JC,et al.SLC26A4/PDS genotype-phenotype correlationin hearingloss with enlarge-ment of the vestibular aqueduct(EVA):evidence that Pen-dred syndrome and non-syndromic EVAare distinct clinical and genetic entities[J].J Med Genet,2005,42:159.
14 Yong AM,Goh SS,Zhao Y,et al.Two Chinese families with Pendred's syndrome--radiological i maging of the ear and molecular analysis of the pendrin gene[J].J Clin Endo-crinol Metab,2001,86:390.
15 Wu CC,Yeh TH,Chen PJ,et al.Prevalent SLC26A4muta-tions in patients with enlarged vestibular aqueduct and/or Mondini dysplasia:a unique spectrum of mutations in Tai-wan,including a frequent founder mutation[J].Laryngo-scope,2005,115:1060.
16 胡浩,梁德生,邬玲仟,等.一个中国耳聋家系的SLC26A4基因分析[J].中华遗传学杂志,2005,22:376.
17 Yang JJ,Tsai CC,Hsu HM,et al.Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene[J].Hear Res,2005,199:22.
18 Coucke PJ,Van Hauwe P,Everett LA,et al.Identification of two different mutationsinthe PDS genein aninbredfamily with Pendred syndrome[J].J Med Genet,1999,36:475.