Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.
Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.
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在患有语前进行性感觉神经性听力障碍的中国 DFNA8/12 家族中鉴定新的 TECTA 突变。
DOI：
10.1371/journal.pone.0070134
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Yuan H
中科院分区：
文献类型：
--
作者：
Li Z;Guo Y;Lu Y;Li J;Jin Z;Li H;Lu Y;Dai P;Han D;Cheng J;Yuan H
Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the transmission of sound to the sensory hair cells. Alpha-tectorin is the most important noncollagenous component of the tectorial membrane and the otolith membrane in the maculae of the vestibular system. Defects in TECTA, the gene encodes alpha-tectorin, are cause of both dominant (DFNA8/12) and recessive (DFNB21) forms of deafness. Here, we report a three-generation Chinese family characterized by prelingual progressive sensorineural hearing impairment. We mapped the disease locus to chromosome 11q23-24 region, overlapping with the DFNA8/12 locus. Sequencing of candidate gene TECTA revealed a heterozygous c.5945C>A substitution in exon 19, causing amino acid substitution of Ala to Asp at a conservative position 1982. The A1982D substitution is consistent with hearing loss in this Chinese family and has not been found in 200 random control chromosomes. To our knowledge, this is the first TECTA mutation identified in Chinese population. Our data provides additional molecular and clinical information for establishing a better genotype–phenotype understanding of DFNA8/12.
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影响因子：
4.8
作者：
Legan, PK;Rau, A;Richardson, GP
通讯作者：
Richardson, GP
影响因子：
2.9
作者：
THALMANN, I
通讯作者：
THALMANN, I
DOI：
10.1097/moo.0b013e32830e20c4
发表时间：
2008-10
影响因子：
1.6
作者：
Richardson GP;Lukashkin AN;Russell IJ
通讯作者：
Russell IJ
DOI：
10.1016/j.ijporl.2007.09.023
发表时间：
2008-02-01
影响因子：
1.5
作者：
Alasti, Fatemeh;Sanati, Mohammad Hossein;Van Camp, Guy
通讯作者：
Van Camp, Guy
影响因子：
5.3
作者：
Balciuniene, J;Dahl, N;Jazin, EE
通讯作者：
Jazin, EE