常染色体显性遗传性综合征型聋基因研究进展
黄爱萍;朱庆文;袁永一;
1:河北医科大学第二医院耳鼻咽喉科
2:解放军总医院耳鼻咽喉头颈外科解放军耳鼻咽喉研究所
1 第二次全国残疾人抽样调查办公室.第二次全国残疾人抽样调查主要数据手册[M].北京:华夏出版社,2007.1~8.
2 Schrijver I.Hereditary non-syndromic sensorineural hearing loss:transforming silence to sound[J].The Journal of Molecular Diagnostics,2004,6:275.
3 蒋雪,梁旗.常染色体显性遗传病特殊类型遗传分析[J].生物学教学,2006,31:74.
4 Kumar S,Rao K.Waardenburg syndrome:A rare genetic disorder,a report of two cases[J].Indian J Hum Genet,2012,18:254.
5 Read AP,Newton VE.Waardenburg syndrome[J].J Med Genet,1997,34:656.
6 Tassabehji M,Newton VE,Read AP.Waardenburg syndrome type 2caused by mutations in the human microphthalmia(MITF)gene[J].Nature Genet,1994,8:251.
7 Pingault V,Bondurand N,Kuhlbrodt K,et al.SOX10mutations in patients with Waaedenburg-Hirschsprung disease[J].Nature Genetics,1998,18:171.
8 Elmaleh-Berge's M,Baumann C,Noel-petroff N,et al.Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10mutations[J].Am J Neuroradiology,2013,34:1 257.
9 杨淑芝,孙勍,刘新.全国20个省份/直辖市部分聋哑学校Waardenburg综合征流行病学抽样调查结果[J].中华耳科学杂志,2010,8:26.
10 Gigante M,d’Altilia M,Montemurno E,et al.BranchioOto-Renal Syndrome(BOR)associated with focal glomerulosclerosis in a patient with a novel EYA1splice site mutation[J].BMC Nephrol,2013,18:60.
11 Chen A,Francis M,Ni L,et al.Phenotypic manifestations of branchio-oto-renal syndrome[J].Am J Med Genet,1995,58:365.
12 Abdelhak S,Kalatzis V,Heilig R,et al.A human homologue of the Drosophila eyes absent gene underlies branchio-otorenal(BOR)syndrome and identifies a novel gene family[J].Nat Genet,1997,15:157.
13 Kumar S,Deffanbacher K,Marres HA,et al.Genome wide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome:clinical and genetic implications[J].Am J Hum Genet,2000,66:1 715.
14 Ruf RG,Berkman J,Wolf MT,et al.A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3[J].Am J Med Genet,2003,40:515.
15 Forlino A,Cabral WA,Barnes AM,et al.New perspectives on osteogenesis imperfecta[J].Nat Rev Endocrinol,2011,7:540.
16 Langman CB.Improvement of bone in patients with osteogenesis imperfecta treated with pamidronate lessons from biochemistry[J].Clinical Endocrinology&Metabolism,2003,88:984.
17 李征玥,程静,卢宇,等.Van der Hoeve综合征家系临床表型特征及COL1A1基因突变分析[J].中华耳科学杂志,2012,10:80.
18 Acke FR,Dhooge IJ,Malfait F,et al.Hearing impairment in Stickler syndrome:a systematic review[J].Orphanet J Dis,2012,30:84.
19 Rose PS,Levy PG,Liberfarm RM,et al.Stickler syndrome:clinical characteristics and diagnostic criteria[J].Am J Med Genet(Part A),2005,138:199.
20 Snead MP,Yates JR.Clinical and molecular genetics of Stickler syndrome[J].J Med Genet,1999,36:353.
21 Richards AJ,Scott JD,Snead MP.Molecular genetics of rhegmatogenous retinal detachment[J].Eye,2002,16:388.
22 李凤荣,周崎,李惠,等.Ι型Stickler综合征家系临床和基因突变研究[J].中华实验眼科杂志,2012,30:941.
23 Snead MP,Yates JR.Clinical and molecular genetics of Stickler syndrome[J].J Med Genet,1999,36:353.
24 Sirk-Osadsa DA,Murray MA,Scott JA,et al.Stickler syndrome without eye involvement is caused by mutations in COL11A2,the gene encoding the alpha2(Xl)chain of typeXl collagen[J].J Pediatr,1998,132:368.
25 龚树生,陈广理,钟刚,等.神经纤维瘤病II型(附1例报告)[J].临床耳鼻咽喉科杂志,2006,20:721.
26 Moffat DA,Irving RM.The molecular genetics of vestibular schwannoma[J].J Laryngology Otol,1995,109:381.
27 Schulze KMM,Hageman CO,Muller HW,et al.Transduction of wild-type Merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis[J].Hum Mol Genet,2002,11:69.
28 Bauer M,Saldarriaga W,Wolfe SA,et al.Two extraordinarily severe cases of Treacher Collins syndrome[J].Am J Med Genet(Part A),2012,3:445.
29 Dixon MJ,Read AP,Donnai D,et al,The gene for Treacher Collins syndrome maps to the long arm of chromosome 5[J].Am J Hum Genet,1991,49:17.
30 Dixon J,Trainor P,Dixon MJ.Treacher Collins Syndrome[J].Orthod Craniofac Res,2007,10:88.
31 Dauwerse JG,Dixon J,Seland S,et al.Mutations in genes encoding subunits of RNA polymerasesⅠandⅢcause Treacher Collins syndrome[J].Nat Genet,2011,43:20.
32 Akre H,Overland B,Asten P,et al.Obstructive sleep apnea in Treacher Collins syndrome[J].Eur Arch Otorhinolaryngol,2012,269:331.
33 Vander Loop F,Heidet L,Timmer ED,et al.Autosomal dominant Alport syndrome caused by a COL4A3splice site mutation[J].Kidney International,2000,58:1 870.
34 Heidet L,Arrondel C,Forestier L,et al.Structure of the human typeⅣcollagen gene COL4A3and mutations in autosomal Alport Syndrome[J].J Am Soc Nehru,2001,12:97.
35 王轶,曹克强,王直中,等.Alport综合征的临床及听力学表现[J].听力学及言语疾病杂志,2003,11:110.
36 Kondoh T,Tsuru A,Matsumoto T,et al.Autosomal dominant onychodystrophy and congenital sensorineural deafness[J].J Hum Genet,1999,44:60.
37 White SM,Fahey M.Report of a further family with dominant deafness-onychodystrophy(DDOD)syndrome[J].Am J Med Genet Part A,2011,155:2 512.
38 Yuan YY,Chang Q,Xin F,et al.Exome sequencing reveals mutation in ATP6V1B2as the cause of dominant deafnessonychodystrophy(DDOD)syndrome[J].Assoc Res Otolaryngol,2013,Abs:7.
39 王占想,陈楠,安亚丽,等.一残毁性掌跖角化病家系GJB2基因突变研究[J].中华皮肤科杂志,2012,45:344.
40 张玲琳,唐黎,王宏伟,等.角膜炎、鱼鳞病、耳聋综合征一例及GJB2基因突变研究[J].中华皮肤科杂志,2012,45:597.
41 De Rocco D,Zieger B,Platokouki H,et al.MYH9-related disease:Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations[J].Eur J Med Genet,2013,56:7.