Targeted next-generation sequencing of deaf patients from Southwestern China.
Targeted next-generation sequencing of deaf patients from Southwestern China.
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中国西南地区聋哑患者的下一代靶向测序
DOI：
10.1002/mgg3.1660
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发表时间：
2021-04
影响因子：
2
通讯作者：
Zhu B
中科院分区：
文献类型：
--
作者：
Li Y;Su J;Zhang J;Pei J;Li D;Zhang Y;Li J;Chen M;Zhu B
靶向下一代测序是识别遗传性耳聋致病突变的有效工具。中国西南地区耳聋患者的分子病理学尚不完全清楚。在这项研究中，对84名耳聋患者进行了127个耳聋基因的靶向下一代测序。它们不是由常见的GJB 2基因突变引起的，包括c.35delG、c.109 G>A、c.167delT、c.176_191del16、c.235delC和c.299_300delAT。在84例耳聋患者的队列中，我们在14例耳聋患者（16.7%，14/84）中未发现任何候选致病变异。70例耳聋患者（83.3%，70/84）中，有34个基因存在致病性变异。在70例耳聋患者中，“已解决”和“未解决”的患者分别占51.43%（36/70）和48.57%（34/70）。耳聋患者中最常见的致病基因是SLC 26 A4（12.9%，9/70）、MT-RNR 1（11.4%，8/70）和MYO 7A（2.9%，2/70）。在“未解决”患者中，可能的致病性变异最多见于SLC 26 A4（8.9%，3/34）、MYO 7A（5.9%，2/34）、OTOF（5.9%，2/34）和PDZD 7（5.9%，2/34）基因。有趣的是，发现了几种新的隐性致病变异体，如SLC 26 A4 c.290 T>G、SLC 26 A4 c.599 A>G、PDZD 7c.490 C>T等。在中国西南部的耳聋患者中发现。因此，该地区的耳聋基因谱值得进一步研究。除了常见的耳聋基因，如GJB 2，SLC 26 A4和MT-RNR 1基因，其他耳聋基因（MYO 7A，OTOF，PDZD 7等）也可能与耳聋有关。在中国西南部的耳聋患者中发现。
Targeted next‐generation sequencing is an efficient tool to identify pathogenic mutations of hereditary deafness. The molecular pathology of deaf patients in southwestern China is not fully understood. In this study, targeted next‐generation sequencing of 127 deafness genes was performed on 84 deaf patients. They were not caused by common mutations of GJB2 gene, including c.35delG, c.109 G>A, c.167delT, c.176_191del16, c.235delC and c.299_300delAT. In the cohorts of 84 deaf patients, we did not find any candidate pathogenic variants in 14 deaf patients (16.7%, 14/84). In other 70 deaf patients (83.3%, 70/84), candidate pathogenic variants were identified in 34 genes. Of these 70 deaf patients, the percentage of “Solved” and “Unsolved” patients was 51.43% (36/70) and 48.57% (34/70), respectively. The most common causative genes were SLC26A4 (12.9%, 9/70), MT‐RNR1 (11.4%, 8/70), and MYO7A (2.9%, 2/70) in deaf patients. In “Unsolved” patients, possible pathogenic variants were most found in SLC26A4 (8.9%, 3/34), MYO7A (5.9%, 2/34), OTOF (5.9%, 2/34), and PDZD7 (5.9%, 2/34) genes. Interesting, several novel recessive pathogenic variants were identified, like SLC26A4 c.290T>G, SLC26A4 c.599A>G, PDZD7c.490 C>T, etc. In addition to common deafness genes, like GJB2, SLC26A4, and MT‐RNR1 genes, other deafness genes (MYO7A, OTOF, PDZD7, etc.) were identified in deaf patients from southwestern China. Therefore, the spectrum of deafness genes in this area should be further studied. In addition to common deafness genes, like GJB2, SLC26A4, and MT‐RNR1 genes, other deafness genes (MYO7A, OTOF, PDZD7, etc.) were identified in deaf patients from southwestern China.
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影响因子：
5.3
作者：
Yan D;Tekin D;Bademci G;Foster J 2nd;Cengiz FB;Kannan-Sundhari A;Guo S;Mittal R;Zou B;Grati M;Kabahuma RI;Kameswaran M;Lasisi TJ;Adedeji WA;Lasisi AO;Menendez I;Herrera M;Carranza C;Maroofian R;Crosby AH;Bensaid M;Masmoudi S;Behnam M;Mojarrad M;Feng Y;Duman D;Mawla AM;Nord AS;Blanton SH;Liu XZ;Tekin M
通讯作者：
Tekin M
影响因子：
7.4
作者：
Shen Z;Zheng J;Chen B;Peng G;Zhang T;Gong S;Zhu Y;Zhang C;Li R;Yang L;Zhou J;Cai T;Jin L;Lu J;Guan MX
通讯作者：
Guan MX
影响因子：
3.6
作者：
Shearer AE;Smith RJ
通讯作者：
Smith RJ
影响因子：
1.4
作者：
Tsukada, Keita;Nishio, Shin-ya;Usami, Shin-ichi
通讯作者：
Usami, Shin-ichi
DOI：
10.1002/ar.22579
发表时间：
2012-11
期刊：
Anatomical record (Hoboken, N.J. : 2007)
影响因子：
--
作者：
Angeli S;Lin X;Liu XZ
通讯作者：
Liu XZ