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本文引用的文献

1
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.靶向捕获和下一代测序鉴定出 C9orf75，其编码蛋白为 taperin，是常染色体隐性遗传非综合征型耳聋 DFNB79 的致病基因。
Am J Hum Genet. 2010 Mar 12;86(3):378-88. doi: 10.1016/j.ajhg.2010.01.030. Epub 2010 Feb 18.
2
Mechanotransduction by hair cells: models, molecules, and mechanisms.毛细胞的机械转导：模型、分子与机制
Cell. 2009 Oct 2;139(1):33-44. doi: 10.1016/j.cell.2009.09.010.
3
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.LOXHD1基因发生突变，该基因是一种在进化上保守的静纤毛蛋白，会破坏小鼠的毛细胞功能，并导致人类进行性听力丧失。
Am J Hum Genet. 2009 Sep;85(3):328-37. doi: 10.1016/j.ajhg.2009.07.017.
4
Hearing loss: mechanisms revealed by genetics and cell biology.听力损失：遗传学和细胞生物学揭示的机制
Annu Rev Genet. 2009;43:411-37. doi: 10.1146/annurev-genet-102108-134135.
5
Phostensin caps to the pointed end of actin filaments and modulates actin dynamics.磷蛋白结合在肌动蛋白丝的尖端并调节肌动蛋白动力学。
Biochem Biophys Res Commun. 2009 Oct 2;387(4):676-81. doi: 10.1016/j.bbrc.2009.07.086. Epub 2009 Jul 19.
6
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.DFNB79：9q34.3 染色体上非综合征性耳聋基因座的再现。
Eur J Hum Genet. 2010 Jan;18(1):125-9. doi: 10.1038/ejhg.2009.121.
7
Mapping insertions, deletions and SNPs on Venter's chromosomes.在文特尔的染色体上定位插入、缺失和单核苷酸多态性。
PLoS One. 2009 Jun 22;4(6):e5972. doi: 10.1371/journal.pone.0005972.
8
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.Espin基因中的一种新突变导致一个摩洛哥家庭出现常染色体隐性非综合征性听力损失，但无明显前庭功能障碍。
Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. doi: 10.1002/ajmg.a.32525.
9
Quiet as a mouse: dissecting the molecular and genetic basis of hearing.静如小鼠：剖析听力的分子和遗传基础。
Nat Rev Genet. 2008 Apr;9(4):277-90. doi: 10.1038/nrg2309. Epub 2008 Feb 19.
10
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.常染色体隐性迟发性听力损失（DFNB8）：德国同胞中两个新的TMPRSS3突变的复合杂合性
J Med Genet. 2007 Jun;44(6):e81. doi: 10.1136/jmg.2007.049122.

TPRN 基因突变导致一种进行性常染色体隐性遗传性非综合征型听力损失。

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

机构信息

Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.

出版信息

Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18.

DOI:10.1016/j.ajhg.2010.02.003
PMID:20170898
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2833376/
Abstract

We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79 locus on chromosome 9q34. By sequencing of 62 positional candidate genes of the critical region, we identified a causative homozygous 11 bp deletion, c.42_52del, in the TPRN gene in all seven affected individuals. The deletion is located in exon 1 and results in a frameshift and premature protein truncation (p.Gly15AlafsX150). Interestingly, the deleted sequence is part of a repetitive and CG-rich motive predicted to be prone to structural aberrations during crossover formation. We identified another family with progressive ARNSHL linked to this locus, whose affected members were shown to carry a causative 1 bp deletion (c.1347delG) in exon 1 of TPRN. The function of the encoded protein, taperin, is unknown; yet, partial homology to the actin-caping protein phostensin suggests a role in actin dynamics.

摘要

我们在一个来自摩洛哥的大型近亲家庭中进行了全基因组纯合性作图，并将该家族的常染色体隐性非综合征性听力损失 (ARNSHL) 映射到 9q34 染色体上的 DFNB79 基因座。通过对关键区域的 62 个位置候选基因进行测序，我们在所有 7 个受影响的个体中发现了 TPRN 基因中一个致病的纯合 11 碱基缺失，c.42_52del。该缺失位于外显子 1 中，导致移码和过早的蛋白截断（p.Gly15AlafsX150）。有趣的是，缺失的序列是一个重复且富含 CG 的序列的一部分，该序列在交叉形成过程中易发生结构异常。我们鉴定了另一个与该基因座相关的进行性 ARNSHL 家族，其受影响的成员在外显子 1 中携带 TPRN 的致病 1 碱基缺失（c.1347delG）。编码蛋白 taperin 的功能未知；然而，与肌动蛋白盖帽蛋白 phostensin 的部分同源性表明其在肌动蛋白动力学中起作用。