Whole-exome sequencing and its impact in hereditary hearing loss

被引：39

作者：

Atik, Tahir ^{[1
,2
,3
]}

Bademci, Guney ^{[1
,2
]}

Diaz-Horta, Oscar ^{[1
,2
]}

Blanton, Susan H. ^{[1
,2
]}

Tekin, Mustafa ^{[1
,2
]}

机构：

[1] Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Coral Gables, FL 33124 USA

[2] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Coral Gables, FL 33124 USA

[3] Ege Univ, Sch Med, Dept Pediat, Div Genet, Izmir, Turkey

来源：

GENETICS RESEARCH | 2015年 / 97卷

基金：

美国国家卫生研究院;

关键词：

LINKED MIXED DEAFNESS; HAIR CELL STEREOCILIA; MUTATIONS CAUSE; GENE; PROTEIN; TBC1D24; FORM; IMPAIRMENT; CAPTURE; GPSM2;

D O I：

10.1017/S001667231500004X

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Next-generation sequencing (NGS) technologies have played a central role in the genetic revolution. These technologies, especially whole-exome sequencing, have become the primary tool of geneticists to identify the causative DNA variants in Mendelian disorders, including hereditary deafness. Current research estimates that 1% of all human genes have a function in hearing. To date, mutations in over 80 genes have been reported to cause nonsyndromic hearing loss (NSHL). Strikingly, more than a quarter of all known genes related to NSHL were discovered in the past 5 years via NGS technologies. In this article, we review recent developments in the usage of NGS for hereditary deafness, with an emphasis on whole-exome sequencing.

引用

页数：8

共 61 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] TBC1D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss [J].

Azaiez, Hela ;

Booth, Kevin T. ;

Bu, Fengxiao ;

Huygen, Patrick ;

Shibata, Seiji B. ;

Shearer, A. Eliot ;

Kolbe, Diana ;

Meyer, Nicole ;

Black-Ziegelbein, E. Ann ;

Smith, Richard J. H. .

HUMAN MUTATION, 2014, 35 (07) :819-823

[3] Exome sequencing as a tool for Mendelian disease gene discovery [J].

Bamshad, Michael J. ;

Ng, Sarah B. ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Emond, Mary J. ;

Nickerson, Deborah A. ;

Shendure, Jay .

NATURE REVIEWS GENETICS, 2011, 12 (11) :745-755

[4] EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness [J].

Behlouli, Asma ;

Bonnet, Crystel ;

Abdi, Samia ;

Bouaita, Aicha ;

Lelli, Andrea ;

Hardelin, Jean-Pierre ;

Schietroma, Cataldo ;

Rous, Yahia ;

Louha, Malek ;

Cheknane, Ahmed ;

Lebdi, Hayet ;

Boudjelida, Kamel ;

Makrelouf, Mohamed ;

Zenati, Akila ;

Petit, Christine .

ORPHANET JOURNAL OF RARE DISEASES, 2014, 9

[5] Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families [J].

Brownstein, Zippora ;

Friedman, Lilach M. ;

Shahin, Hashem ;

Oron-Karni, Varda ;

Kol, Nitzan ;

Abu Rayyan, Amal ;

Parzefall, Thomas ;

Lev, Dorit ;

Shalev, Stavit ;

Frydman, Moshe ;

Davidov, Bella ;

Shohat, Mordechai ;

Rahile, Michele ;

Lieberman, Sari ;

Levy-Lahad, Ephrat ;

Lee, Ming K. ;

Shomron, Noam ;

King, Mary-Claire ;

Walsh, Tom ;

Kanaan, Moien ;

Avraham, Karen B. .

GENOME BIOLOGY, 2011, 12 (09)

[6] Genetic diagnosis by whole exome capture and massively parallel DNA sequencing [J].

Choi, Murim ;

Scholl, Ute I. ;

Ji, Weizhen ;

Liu, Tiewen ;

Tikhonova, Irina R. ;

Zumbo, Paul ;

Nayir, Ahmet ;

Bakkaloglu, Aysin ;

Ozen, Seza ;

Sanjad, Sami ;

Nelson-Williams, Carol ;

Farhi, Anita ;

Mane, Shrikant ;

Lifton, Richard P. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (45) :19096-19101

[7] Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus [J].

Davydov, Eugene V. ;

Goode, David L. ;

Sirota, Marina ;

Cooper, Gregory M. ;

Sidow, Arend ;

Batzoglou, Serafim .

PLOS COMPUTATIONAL BIOLOGY, 2010, 6 (12)

[8] ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4 [J].

DEKOK, YJM ;

VANDERMAAREL, SM ;

BITNERGLINDZICZ, M ;

HUBER, I ;

MONACO, AP ;

MALCOLM, S ;

PEMBREY, ME ;

ROPERS, HH ;

CREMERS, FPM .

SCIENCE, 1995, 267 (5198) :685-688

[9] Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness [J].

Delmaghani, Sedigheh ;

Aghaie, Asadollah ;

Michalski, Nicolas ;

Bonnet, Crystel ;

Weil, Dominique ;

Petit, Christine .

HUMAN MOLECULAR GENETICS, 2012, 21 (17) :3835-3844

[10] FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing [J].

Diaz-Horta, Oscar ;

Subasioglu-Uzak, Asli ;

Grati, M'hamed ;

DeSmidt, Alexandra ;

Foster, Joseph, II ;

Cao, Lei ;

Bademci, Guney ;

Tokgoz-Yilmaz, Suna ;

Duman, Duygu ;

Cengiz, F. Basak ;

Abad, Clemer ;

Mittal, Rahul ;

Blanton, Susan ;

Liu, Xue Z. ;

Farooq, Amjad ;

Walz, Katherina ;

Lu, Zhongmin ;

Tekin, Mustafa .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2014, 111 (27) :9864-9868

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