Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss.
作者： Songqun Hu , Feifei Sun , Jie Zhang , Yan Tang , Jinhong Qiu
DOI: 10.1155/2018/4920980
关键词:
摘要: Nonsyndromic hearing loss has been shown to have high genetic heterogeneity. In this report, we aimed disclose the causes of subjects from ten Chinese deaf families who did not pathogenic common genes/mutation. Next-generation sequencing (NGS) 142 known deafness genes was performed in probands followed by cosegregation analysis all family members. We identified novel variants six including p.D1806E/p.R1588W, p.R964W/p.R1588W, and p.G17C/p.G1449D CDH23; p.T584M/p.D1939N LOXHD1; p.P1225L MYO7A; p.K612X EYA4. Sanger confirmed that these mutations segregated with each family. four families, no were identified. Our study provided better understanding mutation spectrum population.
hindawi.com参考文章(22)
Fei Liu, Jiongjiong Hu, Wenjun Xia, Lili Hao, Jing Ma, Duan Ma, Zhaoxin Ma, Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss PLOS ONE. ,vol. 10, pp. e0126602- ,(2015) , 10.1371/JOURNAL.PONE.0126602
Hyun Seok Choi, Ah Reum Kim, Shin Hye Kim, Byung Yoon Choi, Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing European Archives of Oto-rhino-laryngology. ,vol. 273, pp. 1123- 1129 ,(2016) , 10.1007/S00405-015-3661-2
Aiping Huang, Yongyi Yuan, Yanping Liu, Qingwen Zhu, Pu Dai, A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness Journal of Translational Medicine. ,vol. 13, pp. 154- 154 ,(2015) , 10.1186/S12967-015-0483-3
Yi Sun, Jing Chen, Hanjun Sun, Jing Cheng, Jianzhong Li, Yu Lu, Yanping Lu, Zhanguo Jin, Yuhua Zhu, Xiaomei Ouyang, Denise Yan, Pu Dai, Dongyi Han, Weiyan Yang, Rongguang Wang, Xuezhong Liu, Huijun Yuan, Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. Journal of Human Genetics. ,vol. 56, pp. 64- 70 ,(2011) , 10.1038/JHG.2010.147
MINXING TAN, XIAOFEI SHEN, JUN YAO, QINJUN WEI, YAJIE LU, XIN CAO, GUANGQIAN XING, Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss. International Journal of Molecular Medicine. ,vol. 34, pp. 1467- 1472 ,(2014) , 10.3892/IJMM.2014.1939
Nicolas Grillet, Martin Schwander, Michael S. Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A. Webster, Kimia Kahrizi, Hossein Najmabadi, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Tim Wiltshire, Lisa M. Tarantino, Peter Kuhn, Richard J.H. Smith, Ulrich Müller, Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans American Journal of Human Genetics. ,vol. 85, pp. 328- 337 ,(2009) , 10.1016/J.AJHG.2009.07.017
Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio, Naoyuki Kamatani, Shin-ichi Usami, Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients PLoS ONE. ,vol. 8, pp. e71381- ,(2013) , 10.1371/JOURNAL.PONE.0071381
Yi Sun, Zhao Zhang, Jing Cheng, Yu Lu, Chang-Liang Yang, Yan-Yun Luo, Guang Yang, Hui Yang, Li Zhu, Jia Zhou, Hang-Qi Yao, A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing Journal of Human Genetics. ,vol. 60, pp. 299- 304 ,(2015) , 10.1038/JHG.2015.19
Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami, Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study PLoS ONE. ,vol. 7, pp. e40366- ,(2012) , 10.1371/JOURNAL.PONE.0040366
Qing Sang, Xukun Yan, Huan Wang, Ruizhi Feng, Xiang Fei, Duan Ma, Qinghe Xing, Qiaoli Li, Xinzhi Zhao, Li Jin, Lin He, Huawei Li, Lei Wang, None, Identification and Functional Study of a New Missense Mutation in the Motor Head Domain of Myosin VIIA in a Family with Autosomal Dominant Hearing Impairment (DFNA11) PLoS ONE. ,vol. 8, pp. e55178- ,(2013) , 10.1371/JOURNAL.PONE.0055178