Literature DB >> 23738631

Next-generation sequencing in genetic hearing loss.

Denise Yan1, Mustafa Tekin, Susan H Blanton, Xue Zhong Liu.   

Abstract

The advent of the $1000 genome has the potential to revolutionize the identification of genes and their mutations underlying genetic disorders. This is especially true for extremely heterogeneous Mendelian conditions such as deafness, where the mutation, and indeed the gene, may be private. The recent technological advances in target-enrichment methods and next generation sequencing offer a unique opportunity to break through the barriers of limitations imposed by gene arrays. These approaches now allow for the complete analysis of all known deafness-causing genes and will result in a new wave of discoveries of the remaining genes for Mendelian disorders. In this review, we describe commonly used genomic technologies as well as the application of these technologies to the genetic diagnosis of hearing loss (HL) and to the discovery of novel genes for syndromic and nonsyndromic HL.

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Year:  2013        PMID: 23738631      PMCID: PMC3732417          DOI: 10.1089/gtmb.2012.0464

Source DB:  PubMed          Journal:  Genet Test Mol Biomarkers        ISSN: 1945-0257


  46 in total

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Review 3.  Deafness in the genomics era.

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Journal:  Hear Res       Date:  2011-10-08       Impact factor: 3.208

Review 4.  Keeping up with the next generation: massively parallel sequencing in clinical diagnostics.

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Journal:  J Mol Diagn       Date:  2008-10-02       Impact factor: 5.568

5.  Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Authors:  Sarah B Pierce; Tom Walsh; Karen M Chisholm; Ming K Lee; Anne M Thornton; Agata Fiumara; John M Opitz; Ephrat Levy-Lahad; Rachel E Klevit; Mary-Claire King
Journal:  Am J Hum Genet       Date:  2010-07-30       Impact factor: 11.025

6.  A physical map of the human genome.

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Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

7.  Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

Authors:  Antje K Huebner; Marta Gandia; Peter Frommolt; Anika Maak; Eva M Wicklein; Holger Thiele; Janine Altmüller; Florian Wagner; Antonio Viñuela; Luis A Aguirre; Felipe Moreno; Hannes Maier; Isabella Rau; Sebastian Giesselmann; Gudrun Nürnberg; Andreas Gal; Peter Nürnberg; Christian A Hübner; Ignacio del Castillo; Ingo Kurth
Journal:  Am J Hum Genet       Date:  2011-05-05       Impact factor: 11.025

8.  Genetic heterogeneity of deafness phenotypes linked to DFNA4.

Authors:  Tao Yang; Markus Pfister; Nikolaus Blin; Hans P Zenner; Carsten M Pusch; Richard J H Smith
Journal:  Am J Med Genet A       Date:  2005-11-15       Impact factor: 2.802

Review 9.  Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.

Authors:  David Botstein; Neil Risch
Journal:  Nat Genet       Date:  2003-03       Impact factor: 38.330

10.  A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS.

Authors:  T P O'Hanlon; N Raben; F W Miller
Journal:  Biochem Biophys Res Commun       Date:  1995-05-16       Impact factor: 3.575

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  20 in total

Review 1.  The gene regulatory networks underlying formation of the auditory hindbrain.

Authors:  Marc A Willaredt; Tina Schlüter; Hans Gerd Nothwang
Journal:  Cell Mol Life Sci       Date:  2014-10-21       Impact factor: 9.261

2.  Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Authors:  Imen Chakchouk; M'hamed Grati; Guney Bademci; Mariem Bensaid; Qi Ma; Amine Chakroun; Joseph Foster; Denise Yan; Duygu Duman; Oscar Diaz-Horta; Abdelmonem Ghorbel; Rahul Mittal; Amjad Farooq; Mustafa Tekin; Saber Masmoudi; Xue Zhong Liu
Journal:  Mol Genet Genomics       Date:  2015-01-30       Impact factor: 3.291

Review 3.  Whole-exome sequencing and its impact in hereditary hearing loss.

Authors:  Tahir Atik; Guney Bademci; Oscar Diaz-Horta; Susan H Blanton; Mustafa Tekin
Journal:  Genet Res (Camb)       Date:  2015-03-31       Impact factor: 1.588

4.  A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Authors:  Demet Tekin; Denise Yan; Guney Bademci; Yong Feng; Shengru Guo; Joseph Foster; Susan Blanton; Mustafa Tekin; Xuezhong Liu
Journal:  Hear Res       Date:  2016-02-02       Impact factor: 3.208

5.  The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Authors:  Ryo Maruoka; Toshiki Takenouchi; Chiharu Torii; Atsushi Shimizu; Kumiko Misu; Koichiro Higasa; Fumihiko Matsuda; Arihito Ota; Katsumi Tanito; Akira Kuramochi; Yoshimi Arima; Fujio Otsuka; Yuichi Yoshida; Keiji Moriyama; Michihito Niimura; Hideyuki Saya; Kenjiro Kosaki
Journal:  Genet Test Mol Biomarkers       Date:  2014-10-17

Review 6.  Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

Authors:  Christine D'Aguillo; Sara Bressler; Denise Yan; Rahul Mittal; Robert Fifer; Susan H Blanton; Xuezhong Liu
Journal:  Int J Audiol       Date:  2019-07-02       Impact factor: 2.117

7.  Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Authors:  Denise Yan; Demet Tekin; Guney Bademci; Joseph Foster; F Basak Cengiz; Abhiraami Kannan-Sundhari; Shengru Guo; Rahul Mittal; Bing Zou; Mhamed Grati; Rosemary I Kabahuma; Mohan Kameswaran; Taye J Lasisi; Waheed A Adedeji; Akeem O Lasisi; Ibis Menendez; Marianna Herrera; Claudia Carranza; Reza Maroofian; Andrew H Crosby; Mariem Bensaid; Saber Masmoudi; Mahdiyeh Behnam; Majid Mojarrad; Yong Feng; Duygu Duman; Alex M Mawla; Alex S Nord; Susan H Blanton; Xue Z Liu; Mustafa Tekin
Journal:  Hum Genet       Date:  2016-06-25       Impact factor: 4.132

Review 8.  How Zebrafish Can Drive the Future of Genetic-based Hearing and Balance Research.

Authors:  Lavinia Sheets; Melanie Holmgren; Katie S Kindt
Journal:  J Assoc Res Otolaryngol       Date:  2021-04-28

9.  Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Authors:  Zied Riahi; Crystel Bonnet; Rim Zainine; Malek Louha; Yosra Bouyacoub; Nadia Laroussi; Mariem Chargui; Rym Kefi; Laurence Jonard; Imen Dorboz; Jean-Pierre Hardelin; Sihem Belhaj Salah; Jacqueline Levilliers; Dominique Weil; Kenneth McElreavey; Odile Tanguy Boespflug; Ghazi Besbes; Sonia Abdelhak; Christine Petit
Journal:  PLoS One       Date:  2014-06-13       Impact factor: 3.240

10.  Genetic screening revealed usher syndrome in a paediatric Chinese patient.

Authors:  Chunyan Qu; Fenghe Liang; Qin Long; Min Zhao; Haiqiong Shang; Lynn Fan; Li Wang; Joseph Foster; Denise Yan; Xuezhong Liu
Journal:  Hearing Balance Commun       Date:  2017-05-04
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