TECTA基因突变与常染色体显性遗传非综合征型DFNA8/12型聋的研究进展
郭亿莲;何琦;袁慧军;
1:中山市中医院耳鼻咽喉科
2:中山市残疾人联合委员会
3:解放军总医院耳鼻咽喉研究所





1 Hughes DC,Legan PK,Steel KP,et al.Mapping of theα-Tectorin Gene(TECTA)to mouse chromosome 9and human chromosome 11:a candiodate for human autosomal dominant nonsyndromic deafness[J].Genomics,1998,48:46.
2 Kirschhofer K,Kenyon J B,Hoover D M,et al.Autosomal-dominant,prelingual,nonprogressive sensorineural hearing loss:localization of the gene(DFNA8)to chromosome 11q by linkage in an Austrian family[J].Cytogenet Cell Genet,1998,82:126.
3 Verhoeven K,Vanlaer L,Kirschhofer K,et al.Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment[J].Nature Genet,1998,19:60.
4胡鹏,谢鼎华,肖自安,等.非综合征型语前聋人群中a-盖膜蛋白基因突变检测[J].听力学及言语疾病杂志,2004,12:145.
5 Sagong B,Park HJ,Lee KY,et al.Identification and func-tional characterization of novel compound heterozygotic muta-tions in the TECTA gene[J].Gene,2011.[Epub ahead of print].
6 Gueta R,Levitt J,Xia A,et al.Structural and mechanical a-nalysis of tectorial membrane Tecta mutants[J].Biophys J,2011,100:2 530.
7 Collin RW,De Heer AM,Oostrik J,et al.Mid-frequency DFNA8/12hearing loss caused by a synonymous TECTA mu-tation that affects an exonic splice enhancer[J].Eur J Hum Genet,2008,16:1 430.
8 Moreno-pelayo MA,Del Castillo I,Villamar M,et al.A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant,postlingual,progres-sive,mid frequency hearing loss in a Spanish family[J].J Med Genet,2001,38:E13.
9 Meyer NC,Nishimura CJ,Mcmordie S,et al.Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree[J].Clin Genet,2007,72:130.
10 Plantinga RF,De Brouwer AP,Huygen PL,et al.A novel TECTA mutation in a Dutch DFNA8/12family confirms gen-otype-phenotype correlation[J].J Assoc Res Otolaryngol,2006,7:173.
11 Balciuniene J,Dahl N,Jalonen P,et al.Alpha-tectorin in-volvement in hearing disabilities:one gene-two phenotypes[J].Hum Genet,1999,105:211.
12 Hildebrand MS,Morin M,Meyer NC,et al.DFNA8/12caused by TECTA mutations is the most identified subtype of nonsyn-dromic autosomal dominant hearing loss[J].Hum Mutat,2011,32:825.
13 Fatemeh A,Mohammad HS,Amir HB,et al.A novel TECTA mutation confirms the recognizable phenotype among autoso-mal recessive hearing impairment families[J].International Journal of Pediatric Otorhinolaryngology,2008,72:249.
14王秋菊,杨伟炎,方耀云,等.常染色体显性遗传性耳聋家系的遗传学特征分析[J].中国听力语言康复科学杂志,2005(1):18.