GJB2基因突变与NSHI患者临床表型的相关性研究进展
杨晓林;许政敏;
1:复旦大学附属儿科医院眼耳鼻咽喉科上海市儿童听力障碍诊治中心
1Gracey K.Current conceptsin universal newborn hearingscreening and early hearing detection and intervention programs[J].Ad-vancesin Neonatal Care,2003,3:308.
2Peterson MB,Willems PJ.Non-syndromic,autosomal-re-cessive deafness[J].Clin Genet,2006,69:371.
3Kelsell DP,Dunlop J,Stevens HP,et al.Connexin26muta-tions in hereditary non-syndromic sensorineural deafness[J].Nature,1997,387:80.
4Rabionet R,Gasparini P,Estivill X.Molecular genetics of hearing i mpairment due to mutations in gap junction genes encoding beta connexins[J].Hum Mutat,2000,16:190.
5Marazita ML,Ploughman LM,Rawlings B,et al.Genetic epi-demiological studies of early-onset deafness in the US school-age population[J].AmJ Med Genet,1993,46:486.
6Bruzzone R,White TW,Paul DL.Connections with connexins:The molecular basis of direct intercellular signaling[J].Eur J Biochem,1996,238:1.
7Shoab A,Chen SP,Sun JJ,et al.Connexins26and30are co-assembled to formgap junctions in the cochlea of mice[J].Biochemical and Biophysical Research Communications,2003,307:362.
8Cohen-Sal mon M,Ott T,Michel V,et al.Targeted ablation of connexin26in the inner ear epithelial gap junction network causes hearingi mpairment and cell death[J].Curr Biol,2002,12:1106.
9Friedman T,Battey J,Kachar B,et al.Modifier genes of he-reditary hearing loss[J].Curr Opin Neurobiol,2000,10:487.
10Mukherjee M,Phadke SR,Mittal B.Connexin26and autoso-mal recessive non-syndromic hearing loss[J].Indian J Hum Genet,2003,9:40.
11Paola DA,Veronesi V,Bicego M,et al.Hearing loss:Fre-quency andfunctional studies of the most common connexin26alleles[J].Biochem Biophys Res Commun,2002,296:685.
12Lefebvre PP,Van D,Water TR.Connexins,hearing and deafness:Clinical aspects of mutationsinthe connexin26gene[J].Brain Res Brain Res Rev,2000,32:159.
13Toth T,Kupka S,Haack B,et al.GJB2mutations in patients with non-syndromic hearingloss from Northeastern Hunga-ry[J].Human Mutation,2004,23:631.
14Zoll B,Petersen L,Lange K,et al.Evaluation of Cx26/GJB2in German hearing i mpaired persons:Mutation spectrum and detection of disequilibriumbetween M34T(c.101T>C)and-493del10[J].Human Mutation,2003,21:98.
15Putcha GV,Bejjani BA,Bleoo S,et al.A multicenter study of the frequency and distribution of GJB2and GJB6mutationsin a large North American cohort[J].Genetics in Medicine,2007,9:413.
16Mustapha M,Salem N,Delague V,et al.Autosomal reces-sive non-syndromic hearinglossinthe Lebanese population:prevalence of the30del G mutation and report of two novel mutations in the connexin26(GJB2)gene[J].J Med Genet,2001,38:E36.
17Ramsebner R,Volker R,Lucas T,et al.High incidence of GJB2mutations during screening of newborns for hearingloss in Austria[J].Ear&Hearing,2007,28:298.
18.郭玉芬,刘晓雯,关静,等.西北地区非综合征型耳聋患者GJB2、SLC26A4基因突变的分子流行病学研究[J].听力学及言语疾病杂志,2008,16:362.
19Yu F,Han DY,Dai P,et al.Mutation of GJB2gene in non-syndromic hearing i mpairment patients:analysis of1190ca-ses[J].Chinese Medical Journal,2007,87:2814.
20Shi GZ,Gong LX,Xu XH,et al.GJB2gene mutations in newborns with non-syndromic hearingi mpairment in North-ern China[J].Hearing Research,2004,197:19.
21Oilveira CA,Macie1-Guerra AT,Sartorato EL.Deafness re-sultingfrom mutationsinthe GJB2(connexin26)genein Bra-ziLian patients[J].Clin Genet,2002,61:354.
22Naj mabadi H,Nishi mura C,Kahrizi K,et al.GJB2muta-tions:passage through Iran[J].American Journal of Medical Genetics.,2005,133:132.
23Walsh T,Abu Rayan A,Abu Sa'ed J,et al.Genomic analysis of a heterogeneous Mendelian phenotype:Multiple novel al-leles for inherited hearing loss in the Palestinian population[J].Human Genomics,2006,2:203.
24Pampanos A,Economides J,Iliadou V,et al.Prevalence of GJB2mutations in prelingual deafness in the Greek popula-tion[J].Int J Pediatr Otorhinolaryngol,2002,65:101.
25RamShankar M,Girirajan S,Dagan O,et al.Contribution of connexin26(GJB2)mutations andfounder effect to non-syn-dromic hearing loss in India[J].J Med Genet,2003,40:e68.
26Lerer I,Sagi M,Ben-Neriah Z,et al.Adeletion mutationin GJB6cooperating with a GJB2mutationintransin non-syn-dromic deafness:Anovel founder mutationin Ashkenazi Jews[J].Hum Mutat,2001,18:460.
27Girish VP,Bassem A,Bleool's,et al.A multicenter study of the frequency and distribution of GJB2and GJB6mutationsin a large North American cohort[J].Genetics in Medicine,2007,9:413.
28Ohtsuda A,Yuge I,Ki mura S,et al.GJB2deafness gene shows a specific spectrum of mutations in Japan,including a frequent founder mutation[J].Hum Genet,2003,112:329.
29Xiao ZA,Xie DH.GJB(Cx26)gene mutations in Chinese pa-tients with congenital sensorineural deafness and a report of one novel mutation[J].Chinese Medical Journal,2004,117:1797.
30liu Y,Ke X,Qi Y,et al.Connexin26gene(GJB2):prevalence of mutations in the Chinese population[J].J Hum Genet,2002,47:688.
31Denoyelle F,Well D,Maw MA,et al.Prelingual deafness:High prevalence of a30delG mutation in the connexin26gene[J].Hum Mol Genet,1997,6:2173.
32Liu Y,Ke X,Qi Y,et al.Connexin26gene(GJB2):Prevalenceof mutations in the Chinese population[J].J Hum Genet,2002,47:688.
33Si msek AL,Wanly N,Khabory M.Aseminested PCRtest for si multaneous detection of two common mutations(35del Gand167derT)in the connexin-26gene[J].Mol Diagn,2001,6:63.
34Le Marchal C,Audrzet MP,Qur I,et al.Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator(CFTR)gene by denaturing high—performance li-quid chromatography(D—HPLC):Major i mplications genetic counselling[J].Hum Genet,2001,108:290.
35Pallares-Ruiz N.Blanchet P,Mondain M,et al.Evaluation of dHPLC for CX26mutation screening in patients from southern France with sensorineural deafness[J].Genet Test,2001,5:339.
36王国建,戴朴.基因芯片技术在非综合征性耳聋快速基因诊断中的应用研究[J].中华耳科学杂志,2008,6:61.
37Orzan Z,Murgia A.Connexin26deafnessis not al ways con-genital[J].International Journal of Pediatric Otorhinolaryn-gology,2007,71:501.
38Salvinelli F,Casale M,D′Ascanio L,et al.Hearing loss asso-ciated with35del G mutation in connexin-26(GJB2)gene:Audiogramanalysis[J].The Journal of Laryngology&Otolo-gy,2004,118:8.
39Murgia A,Orzan E,Polli R,et al.Cx26deafness:mutation a-nalysis and clinical variability[J].J Med Genet,1999,36:829.
40Iliadou V,Eleftheriades N,Metaxas AS,et al.Audiologicalprofile of the prevalent genetic formof childhood sensorineu-ral hearing loss due to GJB2mutations in northern Greece[J].Eur Arch Otorhinolaryngol,2004,261:259.
41Xue ZL,Arti P,Si mon A,et al.Audiological features of GJB2(connexin26)deafness[J].Ear&Hearing,2005,26:361.
42Engel-Yeger B,Zaaroura S,Zlotogora J,et al.Otoacoustic emissions and brainstemevoked potentialsin compound carri-ers of connexin26mutations[J].Hearing Research,2003,175:140.
43Norris VW,Arnos KS,Hanks WD,et al.Does universal new-born hearing screening identify all children with GJB2(Con-nexin26)deafness?Penetrance of GJB2deafness[J].Ear&Hearing,2006,27:732.
44Waheeda P,Maria BG,Knight J,et al.Late postnatal onset of hearingloss due to GJB2mutations[J].International Jour-nal of Pediatric Otorhinolaryngology,2006,70:1119.
45Tomohiro O,Akihiro O,Shigenari H,et al.Clinical features of patients with GJB2(connexin26)mutations:Severity of hearing loss is correlated with genotypes and protein expres-sion patterns[J].J Hum Genet,2005,50:76.
46Rikkert LS,Patrick LMH,Delphine F,et al.GJB2mutations and degree of hearing loss:A multicenter study[J].Am J Hum Genet,2005,77:945.
47王秋菊,赵亚丽,兰兰,等.新生儿聋病基因筛查实施方案与策略研究[J].中华耳鼻咽喉头颈外科杂志,2007,42:809.