非综合征型线粒体耳聋的认识、特征及其临床处理
摘要
<正>先天性听力障碍是常见的新生儿出生缺陷,是造成儿童语言发育障碍的核心因素~([3])。国外研究显示新生儿听力障碍发病率可达0.1%～0.2%~([2])。先天性耳聋包括先天获得性耳聋,是指胚胎形成过程中直至分娩前的后天环境因素所造成的:(1)妊娠期(特别是早期)患一些疾病,如流行性感冒、病毒性肝炎等各种传染病,糖尿病、毒血症等严重疾病;(2)应用各种耳毒性抗生素、奎宁、水杨酸盐、利尿剂等药物;(3)妊娠期子痫,早产、难产;(4)分娩时胎儿机械性损伤、脑出血、缺氧等。还包括先天遗传性耳聋,常
引文
1.张丽华,夏爽,祁吉,等.镇静状态下先天性感音神经性耳聋婴幼儿听觉及语言中枢MRI研究.实用放射学杂志2012;28(3):327-331.
2.刘颖,赵辉,陈立辉,等.母亲孕期保健和儿童先天性耳聋的关系.中国美容医学2012;21(14):409-410.
3.Fischel-Ghodsian N.Genetic factors in aminoglycoside toxicity.Pharmacogenomics 2005;6(1):27-36.
4.Hutchin T,Haw orth I,Higashi K,et al.A molecular basis for human hypersensitivity to aminoglycoside antibiotics.Nucleic Acids Res 1993;21(18):4174-4179.
5.Estivill X,Gores N,Barcelo E,et al.Familial progressive sensorineural deafness is mainaly due to the mtDNA A1555G mutation and is enhanced by freatment w ith aminoglycosides.Am J Hum Genet1998;62(1):27-35.
6.Lu J,Qian Y,Li Z,et al.M itochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12SrRNA1555A7G mutation.M itochondrion 2010;10(1):69-81.
7.Bregeon D,Colot V,M icroslav M,et al.Translational misreading;atRNA modification counteracts a tzribosomal frameshift.Geues Dev 2001;15(17):2295-2306.
8.Guan M X,Zhao L D.M itochondriol DNA M utations associated w ith aminoglycoside atotoxicity.Chin J Otol 2006;4(2):98-105.
9.Tang X,Li R,Zheng J,et al.M aternally inherited hearing loss is associated w ith the novl mitochondrial tRNASer(UCN)7505T>C mutation in a Han Chinese family.M ol Genet M etab 2010;100(1):57-64.
10.Reid F M,Vernham G A,Jacobs H T.A novel mitochondrial point mutation in a maternal pedigree w ith sensorineural deafness.Hum M utat 1994;3(3):243-247.
11.Levinger L,Jocobs O,James M.In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNASer(UCN)precursor w ith the U7445C substitution,w hich causes non-syndromic deafness.Nucleic Acids Res 2001;29(21):4334-4340.
12.Guan M X,Enriquez J A,Fischel-Ghodsian N,et al.The deafness-associated mitochondrial DNA mutation at position 7445,w hich affects tRNASer(UCN)precursor processing,has long-range effects on NADH dehydrogenase subunit ND6 gene expression.M ol Cell Biol1998;18(10):5868-5879.
13.Li X,Fischel-Ghodsian N,Schw artz F,et al.Biochemical charaterization of the mitochondrial tRNASec(UCN)T7511C mutation associated w ith nonsyndromic deafness.Nucleic Acids Res 2004;32(3):867-877.
14.郑静,郑斌娇,方芳,等.与耳聋相关的线粒体tRNA突变生物化学与生物物理进展2012;29(1):22-30.
15.Konings A,Van Camp G,Goethals A,et al.M utation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN)genes in non-syndromic hearing loss patients.M itochondrion 2008;8(5-6):377-382.
16.Lehtonen M S,M oilanen J S,M ajamaa K.Increased variation in mtDNA in patients w ith familial sensorineural hearing impairment.Hum Genet 2003;113(3):220-227.
17.Jin L,Yang A,Zhu Y,et al.M itochondrial tRNASer(UCN)gene is the hot spot for mutations associated w ith aminoglycoside-induced and non-syndromic hearing loss.Biochem Biophys Res Commun2007;361(1):133-139.
18.Zhu Y,Qian Y,Tang X,et al.Aminoglycoside-induced and non-syndromic hearing loss is associated w ith the G7444A mutation in the mitochondrial COI/tRNASer(UCN)genes in tw o Chinese families.Biochem Biophys Res Commun 2006;342(3):843-850.
19.Reid F M,Vernham G A,Jacobs H T.A novel mitochondrial point mutation in a maternal pedigree w ith sensorineural deafness.Hum M utat 1994;3(3):243-247.
20.Uehara D T,Rincon D,Abreu-silva R S,et al.Role of the mitochondrial mutations,m.827A>G and the novel m.7462C>T,in the origin of hearing loss.Genet Test M ol Biomarkers 2010;14(5):611-616.
21.Tang X,Li R,Zheng J,et al.M aternally inherited hearing loss is associated w ith the novel mitochondrial tRNASer(UCN)7505T>Cmutation in a Han Chinese family.M ol Genet M etab 2010;100(1):57-64.
22.Hutchin T P,Parker M J,Young I D,et al.A novel mutation in the mitochondrial tRNASer(UCN)gene in a family w ith non-syndromic sensorineural hearing impairment.J M ed Genet 2000;37(9):692-694.
23.Sue C M,Tanji K,Hadjigeorgiou G,et al.M aternally inherited hearing loss in a large kindred w ith a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN)gene.Neurology 1999;52(9):1905-1908.
24.Kato T,Nishigaki Y,Noguchi Y,et al.Extensive and rapid screening for major mitochondrial DNA point mutations in patients w ith hereditary hearing loss.J Hum Genet 2010;55(3):147-154.
25.Lévêque M,M arlin S,Jonard L,et al.Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.Eur J Hum Genet 2007;15(11):1145-1155.
26.Lu J,Qian Y,Li Z,et al.M itochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12SrRNA 1555A>G mutation.M itochondrion 2010;10(1):69-81.
27.Ruiz-Pesini E,Wallace DC.Eridence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.Hum M utat 2006;27(11):1072-1081.
28.Jacobs H J,Hutchin T P.Kappi T,et al.M itochondrial DNAmutation in patients w ith poslinpual nonsdromic nearing impairment.Eur J Hum Genet 2005;13(6):26-33.
29.Cardaioli E,Da Pozzo P,Cerase A,et al.Rapidly progressive nearodegeneration in a case w ith the T472insC mutation and the a7472C polymophism in the mtDNA tRNASer(SUN)gene.Neuromuscul Disord 2006;16(1):26-31.
2.刘颖,赵辉,陈立辉,等.母亲孕期保健和儿童先天性耳聋的关系.中国美容医学2012;21(14):409-410.
3.Fischel-Ghodsian N.Genetic factors in aminoglycoside toxicity.Pharmacogenomics 2005;6(1):27-36.
4.Hutchin T,Haw orth I,Higashi K,et al.A molecular basis for human hypersensitivity to aminoglycoside antibiotics.Nucleic Acids Res 1993;21(18):4174-4179.
5.Estivill X,Gores N,Barcelo E,et al.Familial progressive sensorineural deafness is mainaly due to the mtDNA A1555G mutation and is enhanced by freatment w ith aminoglycosides.Am J Hum Genet1998;62(1):27-35.
6.Lu J,Qian Y,Li Z,et al.M itochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12SrRNA1555A7G mutation.M itochondrion 2010;10(1):69-81.
7.Bregeon D,Colot V,M icroslav M,et al.Translational misreading;atRNA modification counteracts a tzribosomal frameshift.Geues Dev 2001;15(17):2295-2306.
8.Guan M X,Zhao L D.M itochondriol DNA M utations associated w ith aminoglycoside atotoxicity.Chin J Otol 2006;4(2):98-105.
9.Tang X,Li R,Zheng J,et al.M aternally inherited hearing loss is associated w ith the novl mitochondrial tRNASer(UCN)7505T>C mutation in a Han Chinese family.M ol Genet M etab 2010;100(1):57-64.
10.Reid F M,Vernham G A,Jacobs H T.A novel mitochondrial point mutation in a maternal pedigree w ith sensorineural deafness.Hum M utat 1994;3(3):243-247.
11.Levinger L,Jocobs O,James M.In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNASer(UCN)precursor w ith the U7445C substitution,w hich causes non-syndromic deafness.Nucleic Acids Res 2001;29(21):4334-4340.
12.Guan M X,Enriquez J A,Fischel-Ghodsian N,et al.The deafness-associated mitochondrial DNA mutation at position 7445,w hich affects tRNASer(UCN)precursor processing,has long-range effects on NADH dehydrogenase subunit ND6 gene expression.M ol Cell Biol1998;18(10):5868-5879.
13.Li X,Fischel-Ghodsian N,Schw artz F,et al.Biochemical charaterization of the mitochondrial tRNASec(UCN)T7511C mutation associated w ith nonsyndromic deafness.Nucleic Acids Res 2004;32(3):867-877.
14.郑静,郑斌娇,方芳,等.与耳聋相关的线粒体tRNA突变生物化学与生物物理进展2012;29(1):22-30.
15.Konings A,Van Camp G,Goethals A,et al.M utation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN)genes in non-syndromic hearing loss patients.M itochondrion 2008;8(5-6):377-382.
16.Lehtonen M S,M oilanen J S,M ajamaa K.Increased variation in mtDNA in patients w ith familial sensorineural hearing impairment.Hum Genet 2003;113(3):220-227.
17.Jin L,Yang A,Zhu Y,et al.M itochondrial tRNASer(UCN)gene is the hot spot for mutations associated w ith aminoglycoside-induced and non-syndromic hearing loss.Biochem Biophys Res Commun2007;361(1):133-139.
18.Zhu Y,Qian Y,Tang X,et al.Aminoglycoside-induced and non-syndromic hearing loss is associated w ith the G7444A mutation in the mitochondrial COI/tRNASer(UCN)genes in tw o Chinese families.Biochem Biophys Res Commun 2006;342(3):843-850.
19.Reid F M,Vernham G A,Jacobs H T.A novel mitochondrial point mutation in a maternal pedigree w ith sensorineural deafness.Hum M utat 1994;3(3):243-247.
20.Uehara D T,Rincon D,Abreu-silva R S,et al.Role of the mitochondrial mutations,m.827A>G and the novel m.7462C>T,in the origin of hearing loss.Genet Test M ol Biomarkers 2010;14(5):611-616.
21.Tang X,Li R,Zheng J,et al.M aternally inherited hearing loss is associated w ith the novel mitochondrial tRNASer(UCN)7505T>Cmutation in a Han Chinese family.M ol Genet M etab 2010;100(1):57-64.
22.Hutchin T P,Parker M J,Young I D,et al.A novel mutation in the mitochondrial tRNASer(UCN)gene in a family w ith non-syndromic sensorineural hearing impairment.J M ed Genet 2000;37(9):692-694.
23.Sue C M,Tanji K,Hadjigeorgiou G,et al.M aternally inherited hearing loss in a large kindred w ith a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN)gene.Neurology 1999;52(9):1905-1908.
24.Kato T,Nishigaki Y,Noguchi Y,et al.Extensive and rapid screening for major mitochondrial DNA point mutations in patients w ith hereditary hearing loss.J Hum Genet 2010;55(3):147-154.
25.Lévêque M,M arlin S,Jonard L,et al.Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.Eur J Hum Genet 2007;15(11):1145-1155.
26.Lu J,Qian Y,Li Z,et al.M itochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12SrRNA 1555A>G mutation.M itochondrion 2010;10(1):69-81.
27.Ruiz-Pesini E,Wallace DC.Eridence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.Hum M utat 2006;27(11):1072-1081.
28.Jacobs H J,Hutchin T P.Kappi T,et al.M itochondrial DNAmutation in patients w ith poslinpual nonsdromic nearing impairment.Eur J Hum Genet 2005;13(6):26-33.
29.Cardaioli E,Da Pozzo P,Cerase A,et al.Rapidly progressive nearodegeneration in a case w ith the T472insC mutation and the a7472C polymophism in the mtDNA tRNASer(SUN)gene.Neuromuscul Disord 2006;16(1):26-31.