颞骨畸形和非综合征性耳聋SLC26A4基因
摘要
先天性颞骨畸形（主要为大前庭水管综合征）所致耳聋是儿童感音神经性聋的常见原因，与SLC26A4基因突变有密切关系。SLC26A4基因突变的临床特点和发生频率在不同国家、地区、不同种族之间有很大的差异。本文就SLC26A4基因及其突变热点的分子流行病学研究情况做一综述。
出处
《国际耳鼻咽喉头颈外科杂志》
2007年第4期196-198,共3页
International Journal of Otolaryngology-Head and Neck Surgery
基金
国家自然科学基金资助项目（30572015）
参考文献23
-
1Everett L, Glaser B, Beck J, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) . Nat Genet, 1997, 17 (4) : 411-422.
-
2Abe S, Usami S, Hoover D, et al.Fluctuating Sensorineural Hearing Loss Associated With Enlarged Vestibular Aqueduct Maps to 7q31, the Region Containing the Pendred Gene. Am J Med Genet, 1999, 82 (4) : 322-328.
-
3Usami S, Abe S, Weston M, et al. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet, 1999, 104 (2) : 188-192.
-
4Everett L A, Morsli H, Wu D, et al. Expression pattern of the mouse ortholog of the Pendred syndrome gene (PDS) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA, 1999, 96 (17) : 9727-9732.
-
5Fugazzola L, Cemtti N, Mannavola D, et al. The role of pendrin in iodide regulation. Exp Clin Endocr Diab, 2001, 109 (1) : 18-22.
-
6Park H, Shaukat S, Liu X, et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians : global implications for the epidemiology of deafness.J Med Genet, 2003, 40 (4) : 242-248.
-
7Tsukamoto K, Suzuld H, Harada D, et al. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic heating loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet, 2003, 11(12) : 916-922.
-
8Yang J, Tsai C, Hsu H, et al. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.Hear Res, 2005, 199 (1-2) : 22-30.
-
9Blons H, Feldmann D, Duval V, et al.Screening of SLC26A4 (PDS) gene in Pendred syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet, 2004, 66 (4) : 333-340.
-
10Albert S, Blons H, Jonard L, et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet, 2006, 14 (6) : 773-779.
二级参考文献23
-
1刘博,刘中林,廉能静,韩娜,王小彬.大前庭导水管综合征的临床特点[J].中国耳鼻咽喉头颈外科,2004,11(4):213-215. 被引量：21
-
2戴朴,韩东一,冯勃,康东洋,刘新,袁慧军,曹菊阳,张昕,翟所强,杨伟炎,吴柏林.大前庭水管综合征的基因诊断和SLC26A4基因突变分析[J].中国耳鼻咽喉头颈外科,2006,13(5):303-307. 被引量：74
-
3[1]Valvassori GE,Clemis JD.The large vestibular aqueduct syndrome.Laryngoscope,1978,88:723-728.
-
4[2]Emmett JR.The large vestibular aqudect syndrome.Am J Otology,1985,6:387-415.
-
5[5]Campbell C,Cucci RA,Prasad S,et al.Pendred Syndrome,DFNB4 and PDS /SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.Hum Mutat,2001,17:403-411.
-
6[6]Scott DA,Wang R,Kreman TM,et al.Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).Hum Mol Genet,2000,9:1709-1715.
-
7[7]Coyle B,Coffey R,Armour JA,et al.Pendred syndrome(goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.NatGenet,1996,12:421-423.
-
8[8]Sheffield VC,Kraiem Z,Beck JC,et al.Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.Nat Genet,1996,12:424-426.
-
9[9]Everett LA,Glaser B,Beck JC,et al.Pendred syndrome is caused by mutations in a putative sulphate transporter gene(PDS).NatGenet,1997,17:411-422.
-
10[10]Coucke P J,Van Hauwe P,Everett LA,et al.Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.J Med Genet,1999,36:475-477.
共引文献119
-
1杜莉,韩冰,关洪波,何蓉,康东阳,戴朴.遗传性耳聋家庭的产前诊断[J].中国医科大学学报,2009,38(5):382-384. 被引量：3
-
2孙莉莉,张丽,柳爱华.耳聋基因诊断及其在遗传性耳聋预防和阻断中的应用研究[J].中国产前诊断杂志（电子版）,2011,3(2):32-36. 被引量：12
-
3戴朴,朱秀辉,袁永一,朱庆文,滕国春,张昕,刘丽贤,王嘉陵,冯勃,翟所强,康东洋,刘新,黄德亮.Pendred综合征基因热点突变筛查赤峰市聋哑学校大前庭水管综合征患者[J].中华耳鼻咽喉头颈外科杂志,2006,41(7):497-500. 被引量：58
-
4陈晓巍.重视遗传性耳聋的基因诊断[J].中华医学杂志,2007,87(16):1081-1083. 被引量：2
-
5戴朴,韩冰,袁永一,金政策,王毅,向阳,于飞,刘新,王国建,康东洋,张昕,李梅,翟所强,黄德亮,韩东一.基于基因诊断的耳聋遗传咨询、指导作用的初步观察[J].中华医学杂志,2007,87(16):1088-1092. 被引量：16
-
6朱庆文,戴朴,韩东一,林红艳,袁永一,于飞,刘新,康东洋,张昕,金政策,刘丽贤.河南省安阳市特教学校非综合征型聋学生SLC26A4基因突变热点区域的分析[J].听力学及言语疾病杂志,2007,15(3):181-183. 被引量：6
-
7徐晓冰,迟放鲁.前庭水管扩大基因突变和听力表现的相关性研究[J].中国眼耳鼻喉科杂志,2007,7(3):150-152.
-
8袁永一,戴朴,黄德亮,朱秀辉,朱庆文,康东洋,刘丽贤,滕国春.内蒙古赤峰市聋校聋儿SLC26A4基因分析[J].中国耳鼻咽喉头颈外科,2007,14(5):251-256. 被引量：20
-
9李琦,戴朴,黄德亮,金政策,康东洋,朱庆文,张昕.应用试剂盒配合PAGE银染法分析SLC26A4基因IVS7-2A>G突变[J].中华耳科学杂志,2007,5(2):182-185. 被引量：2
-
10韩冰,戴朴,王国建,康东洋,张昕,袁永一,朱庆文,金政策,李梅,翟所强,黄德亮,韩东一.相同表型不同基因型耳聋夫妇家庭的遗传咨询与指导[J].中华耳鼻咽喉头颈外科杂志,2007,42(7):499-503. 被引量：20
-
1李智斌,李继龙,张东升,王星斗.颞骨乳突部骨瘤1例[J].中国耳鼻咽喉头颈外科,2005,12(11):728-728. 被引量：2
-
2杜锦朵,王丽,马芙蓉,潘滔.慢性中耳炎颞骨CT中鼻部影像学改变[J].中国耳鼻咽喉头颈外科,2010,17(6):322-323. 被引量：1
-
3吴娇娇,赵守琴.颞骨先天性胆脂瘤1例[J].中国耳鼻咽喉头颈外科,2009,16(9):529-529.
-
4刘伟.欧洲耳科和神经耳科中的侧颅底外科[J].中国医学文摘（耳鼻咽喉科学）,2005,20(3):187-189.
-
5吕峰,李永团.颞骨先天性胆脂瘤[J].国际耳鼻咽喉头颈外科杂志,2013,37(3):135-138. 被引量：1
-
6黄艳,汪照炎,吴皓.蜗窗膜进路人工耳蜗植入相关颞骨解剖学[J].国际耳鼻咽喉头颈外科杂志,2014,38(4):204-207.
-
7HUANG Qiu-hong, ZHENG Yi-qing Department of Otolaryngology, 2nd Affliated Hospital of Sun Yat-sen Unilersity, Guang zhou, 510120, China.Pediatric Middle Ear Congenital Cholesteatoma: A Case Report[J].Journal of Otology,2008,3(1):56-58.
-
8戴艳红,高下,陈峰,陈兆和.颞骨先天性胆脂瘤的误诊分析[J].中国耳鼻咽喉头颈外科,2006,13(10):731-732. 被引量：3
-
9施靖娟,王武庆.大前庭水管综合征研究进展[J].国际耳鼻咽喉头颈外科杂志,2014,38(6):359-362. 被引量：1
-
10刘莲,刘少峰.基因突变与人工耳蜗植入效果的相关性[J].中国耳鼻咽喉头颈外科,2015,22(2):76-79. 被引量：4
