Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss

American Journal of Human Genetics

Volumn 91, Issue 5, 2012, Pages 872-882

  Yariz, Kemal O ^a   Duman, Duygu ^b   Seco, Celia Zazo ^c,d,e   Dallman, Julia ^f   Huang, Mingqian ^g   Peters, Theo A ^c,d,e   Sirmaci, Asli ^a   Lu, Na ^g,h   Schraders, Margit ^c,d,e   Skromne, Isaac ^f   Oostrik, Jaap ^c,d,e   Diaz Horta, Oscar ^a   Young, Juan I ^a   Tokgoz Yilmaz, Suna ^b   Konukseven, Ozlem ⁱ   Shahin, Hashem ^j   Hetterschijt, Lisette ^c,e   Kanaan, Moien ^j   Oonk, Anne M M ^c,d   Edwards, Yvonne J K ^a   Li, Huawei ^h   Atalay, Semra ^b   Blanton, Susan ^a   Desmidt, Alexandra A ^f   Liu, Xue Zhong ^a,k   Pennings, Ronald J E ^c,d   Lu, Zhongmin ^f   Chen, Zheng Yi ^g   Kremer, Hannie ^c,d,e   Tekin, Mustafa ^a,b   more..

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b ANKARA UNIVERSITY   (Turkey)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f Department of Biology   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h FUDAN UNIVERSITY   (China)

ⁱ ATATURK TRAINING AND RESEARCH HOSPITAL   (Turkey)

^j BETHLEHEM UNIVERSITY   (Palestine)

^k CENTRAL SOUTH UNIVERSITY   (China)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MORPHOLINO OLIGONUCLEOTIDE; OTOGL PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL MEMBRANE; COCHLEA; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SILENCING; HETEROZYGOTE; HUMAN; HUMAN CELL; INNER EAR; NONHUMAN; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; VESTIBULAR SYSTEM;

ADOLESCENT; ANIMALS; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; COCHLEA; EXOME; GENE EXPRESSION PROFILING; GENE KNOCKDOWN TECHNIQUES; HEARING LOSS, SENSORINEURAL; HUMANS; INDEL MUTATION; MALE; MEMBRANE PROTEINS; MICE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RATS; ZEBRAFISH;

DANIO RERIO; VERTEBRATA;

EID: 84868347148     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.09.011     Document Type: Article

References (31)

1. D.R. Lenz, and K.B. Avraham Hereditary hearing loss: from human mutation to mechanism Hear. Res. 281 2011 3 10
2. C.C. Morton, and W.E. Nance Newborn hearing screening - a silent revolution N. Engl. J. Med. 354 2006 2151 2164
3. D. Duman, A. Sirmaci, F.B. Cengiz, H. Ozdag, and M. Tekin Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey Genet Test Mol Biomarkers 15 2011 29 33
4. L.J. Francey, L.K. Conlin, H.E. Kadesch, D. Clark, D. Berrodin, Y. Sun, J. Glessner, H. Hakonarson, C. Jalas, and C. Landau Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment Am. J. Med. Genet. A. 158A 2012 298 308
5. S. Marlin, D. Feldmann, H. Blons, N. Loundon, I. Rouillon, S. Albert, P. Chauvin, E.N. Garabédian, R. Couderc, and S. Odent GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients Arch. Otolaryngol. Head Neck Surg. 131 2005 481 487
6. A. Sirmaci, S. Erbek, J. Price, M. Huang, D. Duman, F.B. Cengiz, G. Bademci, S. Tokgöz-Yilmaz, B. Hişmi, and H. Ozdag A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss Am. J. Hum. Genet. 86 2010 797 804
7. M. Schraders, J. Oostrik, P.L. Huygen, T.M. Strom, E. van Wijk, H.P. Kunst, L.H. Hoefsloot, C.W. Cremers, R.J. Admiraal, and H. Kremer Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction Am. J. Hum. Genet. 86 2010 604 610
8. L. Kruglyak, M.J. Daly, M.P. Reeve-Daly, and E.S. Lander Parametric and nonparametric linkage analysis: a unified multipoint approach Am. J. Hum. Genet. 58 1996 1347 1363
9. H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
10. A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, and M.A. DePristo The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res. 20 2010 1297 1303
11. H. Bohr, J. Bohr, S. Brunak, R.M. Cotterill, B. Lautrup, L. Norskov, O.H. Olsen, and S.B. Petersen Protein secondary structure and homology by neural networks. The alpha-helices in rhodopsin FEBS Lett. 241 1988 223 228
12. M.G. Reese, F.H. Eeckman, D. Kulp, and D. Haussler Improved splice site detection in Genie J. Comput. Biol. 4 1997 311 323
13. M.J. Gamundi, I. Hernan, M. Muntanyola, M. Maseras, P. López-Romero, R. Alvarez, A. Dopazo, S. Borrego, and M. Carballo Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa Hum. Mutat. 29 2008 869 878
14. A.M. de Heer, R.W.J. Collin, P.L.M. Huygen, M. Schraders, J. Oostrik, M. Rouwette, H.P.M. Kunst, H. Kremer, and C.W. Cremers Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1 Audiol. Neurootol. 16 2011 93 105
15. M.W. Luijendijk, T.J. van de Pol, G. van Duijnhoven, A.I. den Hollander, J. ten Caat, V. van Limpt, H.G. Brunner, H. Kremer, and F.P. Cremers Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs Genomics 82 2003 480 490
16. K.J. Livak, and T.D. Schmittgen Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method Methods 25 2001 402 408
17. J.M. Stapelbroek, T.A. Peters, D.H. van Beurden, J.H. Curfs, A. Joosten, A.J. Beynon, B.M. van Leeuwen, L.M. van der Velden, L. Bull, and R.P. Oude Elferink ATP8B1 is essential for maintaining normal hearing Proc. Natl. Acad. Sci. USA 106 2009 9709 9714
18. M. Huang, C. Sage, H. Li, M. Xiang, S. Heller, and Z.Y. Chen Diverse expression patterns of LIM-homeodomain transcription factors (LIM-HDs) in mammalian inner ear development Dev. Dyn. 237 2008 3305 3312
19. M. Westerfield The Zebrafish Book. A Guide for the Laboratory use of Zebrafish (Danio Rerio) 2000 Univ. of Oregon Press Eugene, OR
20. W. Go, D. Bessarab, and V. Korzh atp2b1a regulates Ca(2+) export during differentiation and regeneration of mechanosensory hair cells in zebrafish Cell Calcium 48 2010 302 313
21. H. Shahin, M. Rahil, A. Abu Rayan, K.B. Avraham, M.C. King, M. Kanaan, and T. Walsh Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84 J. Med. Genet. 47 2010 643 645
22. C. Haddon, and J. Lewis Early ear development in the embryo of the zebrafish, Danio rerio J. Comp. Neurol. 365 1996 113 128
23. I. Skromne, D. Thorsen, M. Hale, V.E. Prince, and R.K. Ho Repression of the hindbrain developmental program by Cdx factors is required for the specification of the vertebrate spinal cord Development 134 2007 2147 2158
24. C.J. Starr, J.A. Kappler, D.K. Chan, R. Kollmar, and A.J. Hudspeth Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells Proc. Natl. Acad. Sci. USA 101 2004 2572 2577
25. D.P. Corey, J. García-Añoveros, J.R. Holt, K.Y. Kwan, S.Y. Lin, M.A. Vollrath, A. Amalfitano, E.L. Cheung, B.H. Derfler, and A. Duggan TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells Nature 432 2004 723 730
26. M. Cohen-Salmon, A. El-Amraoui, M. Leibovici, and C. Petit Otogelin: a glycoprotein specific to the acellular membranes of the inner ear Proc. Natl. Acad. Sci. USA 94 1997 14450 14455
27. S.J. Moorman, R. Cordova, and S.A. Davies A critical period for functional vestibular development in zebrafish Dev. Dyn. 223 2002 285 291
28. R.J. Goodyear, and G.P. Richardson Extracellular matrices associated with the apical surfaces of sensory epithelia in the inner ear: molecular and structural diversity J. Neurobiol. 53 2002 212 227
29. G.A. Manley Cochlear mechanisms from a phylogenetic viewpoint Proc. Natl. Acad. Sci. USA 97 2000 11736 11743
30. A. El-Amraoui, M. Cohen-Salmon, C. Petit, and M.C. Simmler Spatiotemporal expression of otogelin in the developing and adult mouse inner ear Hear. Res. 158 2001 151 159
31. M.C. Simmler, M. Cohen-Salmon, A. El-Amraoui, L. Guillaud, J.C. Benichou, C. Petit, and J.J. Panthier Targeted disruption of otog results in deafness and severe imbalance Nat. Genet. 24 2000 139 143