Waardenburg综合征的研究进展
陈红胜;张华;冯永;
1:中南大学湘雅医院耳鼻咽喉科
2:新疆医科大学第一附属医院耳鼻咽喉科





1 Farrer LA,Grundfast KM,Amos J,et al.Waardenburg syn-drome(WS)type I is caused by defects at mutiple loci,one of which is near ALPP on chromosome 2:first report of the WS consortium[J].Am J Hum Genet,1992,50:902.
2 Liu XZ,Newton VE,Read AP.Waardenburg syndrome ty-peII:phenotypic finding and diagnostic critria[J].Am J Med Genet,1995,55:95.
3 Madden C,Halsted MJ,Hopkin RJ,et al.Temporal bone ab-normalities associated with hearing loss in waardenburg syn-drome[J].Laryngoscope,2003,113:2 035.
4 Bondurand N,Dastot-Le Moal F,Stanchina L,et al.Dele-tions at the SOX10gene locus cause waardenburg syndrome types 2and 4[J].Am J Hum Genet,2007,81:1 169.
5 Pingault V,Ente D,Moal FD,et al.Review and update of mutations causing Waardenburg syndrome[J].Hum Muta-tion,2010,31:391.
6 Wollnik B,Tukel T,Uyguner O,et al.Homozygous and het-erozygous inheritance of PAX3 mutations causes different types of waardenburg syndrome[J].Am J Med Genet A,2003,122A:42.
7 Zlotogora J,Lerer I,Bar-David S,et al.Homozygosity for Waardenburg syndrome[J].Am J Hum Genet,1995,56:1173.
8 Sheffer R,Zlotogora J.Autosomal dominant inheritance of Klein-Waardenburg syndrome[J].Am J Med Genet,1992,42:320.
9 Tassabehji M,Newton VE,Read AP.Waardenburg Syndrome type 2caused by mutations in the human microphthalmia(MITF)gene[J].Nat Genet,1994,8:251.
10 Smith SD,Kellry PM,Kenyon JB,et al.Tietz syndrome(hy-popigmentation/deafness)cause by mutation of MITF[J].J Med Genet,2000,37:446.
11 Stegmann K,Boecker J,Kosan C,et al.Human transcrip-tion factor SLUG:mutation analysis in patients with neural tube defects and identification of a missense mutation(D119E)in the Slug subfamily-defining region[J].Mutat Res,1999,406:63.
12 Pérez-Mancera PA,Bermejo-Rodríguez C,González-Her-rero I.Adipose tissue mass is modulated by SLUG(SNAI2)[J].Hum Mol Genet,2007,16:2 972.
13 Sanchez-Martin M,Rodriguez-Garcia A,Perez-Losada J,et al.SLUG(SNAI2)deletions in patients with Waarden-burg disease[J].Hum Mol Genet,2002,11:3 231.
14 Bidaud C,Salomon R,Van Camp G,et al.Endothelin-3 gene mutations in isolated and syndromic Hirschsprung dis-ease[J].Eur J Hum Genet 1997,5:247.
15 Pingault V,Bondurand N,Kuhlbrodt K,et al.SOX10muta-tions in patients with Waardenburg-Hirschsprung disease[J].NatGenet,1998,18:171.
16 Sham MH,Lui VC,Chen BL,et al.Novel mutations of SOX10suggest a dominant negative role in Waardenburg-Shah syndrome[J].J Med Genet,2001,38:E30.
17 Touranie RL,Attie-Bitach T,Manceau E,et al.Neurological phenotype in Waardenburg syndrome type 4correlates with novel SOX10truncating mutations and expression in develo-ping brain[J].American journal of human genetics,2000,66:1 496.
18 Iso M,Fukami M,Horikawa R,et al.SOX10mutation in Waardenburg syndrome type II[J].Am J Med Genet Part A,2008,146A:2 162.
19 Inoue K,Khajavi M,Ohyama T,et al.Molecular mechanism for distinct neurological phenotypes conveyed by allelic trun-cating mutations[J].Nature Genet,2004,36:361.
20 Sanchez-Mejias A,Watanabe Y,R MF,et al.Involvement of SOX10in the pathogenesis of Hirschsprung disease:report of a truncating mutation in an isolated patient[J].J Mol Med(Berl),2010,88:507.
21 Bondurand N,Kuhlbrodt K,Pingault V,et al.A molecular a-nalysis of the Yemenite deaf-blind hypopigmentation syn-drome:SOX10dysfunction causes different neurocristopathies[J].Hum Mol Genet,1999,8:1 785.
22 Qin W,Shu AL,Qian XQ,et al.A novel mutation of PAX3in a Chinese family with Waardenburg syndrome[J].Molecular Vision,2006,12:1 001.
23陈光,戚豫,王会中,等.中国人Waardenburg综合征II型MITF突变基因分析[J].中国优生与遗传杂志,2000,8:11.
24 Chen H,Jiang L,Xie Z,et al.Novel mutations of PAX3,MITF,and SOX10genes in Chinese patients with type I or type II waardenburg syndrome[J].Biochem Biophy Res Commun,2010,397:70.
25 Jiang L,Chen H,Jiang W,et al.Novel mutations in the SOX10gene in the first two Chinese cases of type IV Waar-denburg syndrome[J].Biochem Biophys Res Commun,2011,408:620.
26 Zhang H,Chen H,Luo H,et al.Functional analysis of Waar-denburg syndrome-associated PAX3and SOX10mutations:report of a dominant-nagative SOX10mutation in Waarden-burg syndrome type II[J].Hum Genet,2012,131:493.
27 Yang SZ,Cao JY,Zhang RN,et al.Nonsense mutations in the PAX3gene cause Waardenburg syndrome type I in two Chinese patients[J].Chin Med J,2007,120:46.
28卢宇,程静,朱庆文,等.Waardenburg综合征I型PAX3基因突变筛查及遗传咨询[J].中华耳科学杂志,2010,8:22.
29 Yan X,Zhang T,Wang Z,et al.A novel mutation in the MITF may be digenic with GJB2mutations in a large Chinese family of Waardenburg syndrome type II[J].J Genet Genom-ics,2011,38:585.
30 Wang J,Li S,Xiao X,et al.PAX3mutation an clinical charac-teristics in Chinese patients with Waardenburg syndrome type I[J].Mol Vis,2010,16:1 146.
31 Chen J,Yang SZ,Liu J,et al.Mutation screening of MITF gene in patients with Waardenburg syndrome type 2[J].Yi Chan,2008,30:433.
32 Yang T,Li X,Huang Q,et al.Double heterozygous muta-tions of MITF and PAX3result in Waardenburg syndrome with increased penetrance in pigmentary defects[J].Clin Genet,2012 Feb 9.doi:10.1111/j.1399-0004.2012.01853.x.
33杨淑芝,曹菊阳,张锐宁,等.Waardenburg综合征II型中国家系MITF基因突变分析[J].中国听力语言康复科学杂志,2006(2):16.
34 Morell R,Friedman TB,Asher JH Jr,et al.The incidence of deafness is nonrandomly distributed among families segrega-ting for Waardenburg syndrome type 1(WS1)[J].J Med Genet,1997,34:447.
35 Destefano AL,Cupples A,Arnos KS,et al.Correlation be-tween Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3mutations[J].Hum Genet,1998,102:499.
36 Roland TJ,Fishman AJ,Waltzman SB,et al.Stability of the cochlear implant array in children[J].Laryngoscope,1998,108:1 119.
37 Kontorinis G,Lenarz T,Giourgas A,et al.Outcomes and special considerations of cochlear implantation in waardenburg syndrome[J].Otol Neurotol,2011,32:951.
38万良财,郭梦和,陈帅君,等.人工耳蜗植入在Waardenburg综合征II型患儿中的应用[J].临床耳鼻咽喉头颈外科杂志,2010,24:436.