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一个中国 DFNA8/12 家系中新型 TECTA 突变导致的语前进展性感音神经性听力损失的鉴定。

Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.

机构信息

Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.

出版信息

PLoS One. 2013 Jul 31;8(7):e70134. doi: 10.1371/journal.pone.0070134. Print 2013.

DOI:10.1371/journal.pone.0070134
PMID:23936151
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3729559/
Abstract

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.

摘要

盖膜是耳蜗的细胞外基质，在声音向感觉毛细胞的传递中起着至关重要的作用。α-连接蛋白是盖膜和前庭系统斑中的耳石膜中最重要的非胶原蛋白成分。TECTA 基因的缺陷是显性（DFNA8/12）和隐性（DFNB21）耳聋的原因。在这里，我们报告了一个具有语言前进行性感音神经性听力障碍的三代中国家族。我们将疾病定位到染色体 11q23-24 区域，与 DFNA8/12 基因座重叠。候选基因 TECTA 的测序显示外显子 19 中的杂合 c.5945C>A 取代，导致保守位置 1982 处的丙氨酸取代为天冬氨酸。A1982D 取代与这个中国家族的听力损失一致，在 200 个随机对照染色体中未发现。据我们所知，这是在中国人群中发现的第一个 TECTA 突变。我们的数据为建立更好的 DFNA8/12 基因型-表型理解提供了额外的分子和临床信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/479c/3729559/7784af177f17/pone.0070134.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/479c/3729559/8deab4d45a98/pone.0070134.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/479c/3729559/7784af177f17/pone.0070134.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/479c/3729559/8deab4d45a98/pone.0070134.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/479c/3729559/7784af177f17/pone.0070134.g002.jpg

相似文献

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Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.一个中国 DFNA8/12 家系中新型 TECTA 突变导致的语前进展性感音神经性听力损失的鉴定。
PLoS One. 2013 Jul 31;8(7):e70134. doi: 10.1371/journal.pone.0070134. Print 2013.
2
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A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.一种新型TECTA突变证实了常染色体隐性听力损失家族中可识别的表型。
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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.由 TECTA 突变引起的 DFNA8/12 是最常见的常染色体显性遗传性非综合征型听力损失亚型。
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引用本文的文献

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2
Otolith tethering in the zebrafish otic vesicle requires Otogelin and α-Tectorin.斑马鱼耳囊中耳石的固定需要耳胶蛋白和α-耳畸蛋白。
Development. 2015 Mar 15;142(6):1137-45. doi: 10.1242/dev.116632.
3
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.一个患有常染色体显性非综合征性听力损失的中国家庭中TECTA基因的新型突变。

本文引用的文献

1
The tectorial membrane: one slice of a complex cochlear sandwich.盖膜：复杂耳蜗“三明治”的一片。
Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):458-64. doi: 10.1097/MOO.0b013e32830e20c4.
2
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.一种新型TECTA突变证实了常染色体隐性听力损失家族中可识别的表型。
Int J Pediatr Otorhinolaryngol. 2008 Feb;72(2):249-55. doi: 10.1016/j.ijporl.2007.09.023. Epub 2007 Nov 19.
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Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss.
PLoS One. 2014 Feb 21;9(2):e89240. doi: 10.1371/journal.pone.0089240. eCollection 2014.
常染色体显性遗传性听力损失家族中临床特征与TECTA基因突变的关联
Arch Otolaryngol Head Neck Surg. 2002 Aug;128(8):913-7. doi: 10.1001/archotol.128.8.913.
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Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes.α - 肌纤蛋白与听力障碍的关系：一个基因——两种表型。
Hum Genet. 1999 Sep;105(3):211-6. doi: 10.1007/s004390051091.
5
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).COL11A2基因的突变会导致非综合征性听力损失（DFNA13）。
Nat Genet. 1999 Dec;23(4):413-9. doi: 10.1038/70516.
6
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.α-肌纤蛋白基因缺陷导致一种新发现的常染色体隐性遗传形式的感觉神经性先天性非综合征性耳聋，即DFNB21。
Hum Mol Genet. 1999 Mar;8(3):409-12. doi: 10.1093/hmg/8.3.409.
7
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.人类α-肌动蛋白基因的突变会导致常染色体显性非综合征性听力障碍。
Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60.
8
Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness.α-肌动蛋白基因（TECTA）在小鼠9号染色体和人类11号染色体上的定位：人类常染色体显性非综合征性耳聋的一个候选基因。
Genomics. 1998 Feb 15;48(1):46-51. doi: 10.1006/geno.1997.5159.
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The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system.小鼠耳盖素。内耳的模块化基质蛋白，与精卵黏附系统的成分同源。
J Biol Chem. 1997 Mar 28;272(13):8791-801. doi: 10.1074/jbc.272.13.8791.
10
Collagen of accessory structures of organ of Corti.柯蒂氏器附属结构的胶原蛋白。
Connect Tissue Res. 1993;29(3):191-201. doi: 10.3109/03008209309016826.