Literature DB >> 24006325

Advances in genetic diagnostics for hereditary hearing loss.

Natali Idan, Zippora Brownstein, Shaked Shivatzki, Karen B Avraham.   

Abstract

Hereditary hearing loss affects a significant proportion of the hearing impaired, with genetic mutations estimated to be responsible for its etiology in over 50% of this population. The methods for molecular diagnostics are changing as a result of the transition from linkage analysis to next generation sequencing to identify the genes responsible for hearing loss in affected families. In this review, we summarize the attitudes of the hearing impaired towards genetic testing, the latest techniques for identifying mutations, and provide a comprehensive list of the mutations found in the Israeli Jewish hearing-impaired population.

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Year:  2013        PMID: 24006325     DOI: 10.1515/jbcpp-2013-0063

Source DB:  PubMed          Journal:  J Basic Clin Physiol Pharmacol        ISSN: 0792-6855


  6 in total

1.  CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.

Authors:  Vincent Michel; Kevin T Booth; Pranav Patni; Matteo Cortese; Hela Azaiez; Amel Bahloul; Kimia Kahrizi; Ménélik Labbé; Alice Emptoz; Andrea Lelli; Julie Dégardin; Typhaine Dupont; Asadollah Aghaie; Danuta Oficjalska-Pham; Serge Picaud; Hossein Najmabadi; Richard J Smith; Michael R Bowl; Steven Dm Brown; Paul Avan; Christine Petit; Aziz El-Amraoui
Journal:  EMBO Mol Med       Date:  2017-12       Impact factor: 12.137

2.  Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.

Authors:  Tian-Yi Cui; Xue Gao; Sha-Sha Huang; Yan-Yan Sun; Si-Qi Zhang; Xin-Xia Jiang; Yan-Zhong Yang; Dong-Yang Kang; Qing-Wen Zhu; Yong-Yi Yuan
Journal:  Neural Plast       Date:  2020-07-01       Impact factor: 3.599

3.  Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform.

Authors:  Yan Hao; Dawei Chen; Zhiguo Zhang; Ping Zhou; Yunxia Cao; Zhaolian Wei; Xiaofeng Xu; Beili Chen; Weiwei Zou; Mingrong Lv; Dongmei Ji; Xiaojin He
Journal:  Oncol Lett       Date:  2018-01-26       Impact factor: 2.967

4.  Loss of ARHGEF6 Causes Hair Cell Stereocilia Deficits and Hearing Loss in Mice.

Authors:  Chengwen Zhu; Cheng Cheng; Yanfei Wang; Waqas Muhammad; Shuang Liu; Weijie Zhu; Buwei Shao; Zhong Zhang; Xiaoqian Yan; Qingqing He; Zhengrong Xu; Chenjie Yu; Xiaoyun Qian; Ling Lu; Shasha Zhang; Yuan Zhang; Wei Xiong; Xia Gao; Zhigang Xu; Renjie Chai
Journal:  Front Mol Neurosci       Date:  2018-10-02       Impact factor: 5.639

5.  Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

Authors:  Yongyi Yuan; Qi Li; Yu Su; Qiongfen Lin; Xue Gao; Hankui Liu; Shasha Huang; Dongyang Kang; N Wendell Todd; Douglas Mattox; Jianguo Zhang; Xi Lin; Pu Dai
Journal:  Eur J Hum Genet       Date:  2019-09-20       Impact factor: 4.246

6.  Molecular approach of auditory neuropathy.

Authors:  Magali Aparecida Orate Menezes da Silva; Vânia Belintani Piatto; Jose Victor Maniglia
Journal:  Braz J Otorhinolaryngol       Date:  2015-03-30
  6 in total

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