Access the full text.
Sign up today, get DeepDyve free for 14 days.
A. Tlili, I. Rebeh, M. Aifa-Hmani, H. Dhouib, J. Moalla, Jihen Tlili-Chouchène, Mariem Said, I. Lahmar, Zeineb Benzina, I. Charfedine, N. Driss, A. Ghorbel, H. Ayadi, S. Masmoudi (2008)
TMC1 but Not TMC2 Is Responsible for Autosomal Recessive Nonsyndromic Hearing Impairment in Tunisian FamiliesAudiology and Neurotology, 13
Kiyoto Kurima, Yandan Yang, Katherine Sorber, A. Griffith (2003)
Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis.Genomics, 82 3
W. Marcotti, A. Erven, Stuart Johnson, K. Steel, C. Kros (2006)
Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochleaThe Journal of Physiology, 574
T. Lindner, K. Hoffmann (2005)
easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analysesBioinformatics, 21 3
V. Carlton, B. Harris, E. Puffenberger, Ashok Batta, A. Knisely, Donna Robinson, K. Strauss, B. Shneider, W. Lim, G. Salen, D. Morton, L. Bull (2003)
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAATNature Genetics, 34
R. Santos, M. Wajid, Mohammad Khan, Nathan McArthur, Thanh Pham, A. Bhatti, Kwanghyuk Lee, S. Irshad, Asif Mir, K. Yan, Maria Chahrour, M. Ansar, W. Ahmad, S. Leal (2005)
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairmentHuman Mutation, 26
G. Keresztes, H. Mutai, S. Heller (2003)
TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteinsBMC Genomics, 4
E. Lander, L. Kruglyak (1995)
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage resultsNature Genetics, 11
A. Suls, K. Claeys, D. Goossens, Boris Harding, R. Luijk, Stefaan Scheers, L. Deprez, D. Audenaert, T. Dyck, S. Beeckmans, Iris Smouts, B. Ceulemans, L. Lagae, G. Buyse, N. Barišić, J. Misson, J. Wauters, J. Del-Favero, P. Jonghe, L. Claes (2006)
Microdeletions involving the SCN1A gene may be common in SCN1A‐mutation‐negative SMEI patientsHuman Mutation, 27
P. Jain, K. Fukushima, D. Deshmukh, A. Ramesh, E. Thomas, A. Lalwani, S. Kumar, B. Plopis, H. Skarka, C. Srisailapathy (1995)
A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus.Human molecular genetics, 4 12
Liat Linde, Stephanie Boelz, G. Neu-Yilik, A. Kulozik, B. Kerem (2007)
The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cellsEuropean Journal of Human Genetics, 15
S. Kitajiri, R. McNamara, T. Makishima, T. Husnain, A. Zafar, RA Kittles, Z. Ahmed, T. Friedman, S. Riazuddin, A. Griffith (2007)
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in PakistanClinical Genetics, 72
K. Sleegers, N. Brouwers, I. Gijselinck, J. Theuns, D. Goossens, J. Wauters, J. Del-Favero, M. Cruts, C. Duijn, C. Broeckhoven (2006)
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy.Brain : a journal of neurology, 129 Pt 11
S. Kitajiri, T. Makishima, T. Friedman, A. Griffith (2007)
A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype–phenotype correlation for amino acid‐572 of TMC1Clinical Genetics, 71
Kiyoto Kurima, Linda Peters, Yandan Yang, S. Riazuddin, Zubair Ahmed, S. Naz, D. Arnaud, S. Drury, J. Mo, T. Makishima, M. Ghosh, P. Menon, D. Deshmukh, C. Oddoux, H. Ostrer, Shaheen Khan, S. Riazuddin, P. Deininger, L. Hampton, S. Sullivan, J. Battey, B. Keats, E. Wilcox, T. Friedman, A. Griffith (2002)
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionNature Genetics, 30
A. Parving (1999)
The need for universal neonatal hearing screening–some aspects of epidemiology and identificationActa Pædiatrica, 88
E. Capriotti, P. Fariselli, R. Casadio (2005)
I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structureNucleic Acids Research, 33
C. Meyer, N. Gasmelseed, A. Mergani, M. Magzoub, B. Muntau, T. Thye, R. Horstmann (2005)
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigreeHuman Mutation, 25
C. Berezin, F. Glaser, J. Rosenberg, Inbal Paz, T. Pupko, P. Fariselli, R. Casadio, N. Ben-Tal (2004)
ConSeq: the identification of functionally and structurally important residues in protein sequencesBioinformatics, 20 8
R. Grantham (1974)
Amino Acid Difference Formula to Help Explain Protein EvolutionScience, 185
M. Krawczak, J. Reiss, D. Cooper (1992)
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequencesHuman Genetics, 90
S. Vreugde, A. Erven, C. Kros, W. Marcotti, H. Fuchs, Kiyoto Kurima, E. Wilcox, T. Friedman, A. Griffith, R. Balling, M. Angelis, K. Avraham, K. Steel (2002)
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36Nature Genetics, 30
E. Kalay, A. Karagüzel, R. Çaylan, A. Heister, Frans Cremers, Cor Cremers, Han Brunner, A.P.M. Brouwer, Hannie Kremer (2005)
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing lossHuman Mutation, 26
Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJH, Van Camp G. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.Clin Genet 2008: 74: 223–232. © Blackwell Munksgaard, 2008Hearing loss is the most frequent sensorineural disorder affecting 1 in 1000 newborns. In more than half of these babies, the hearing loss is inherited. Hereditary hearing loss is a very heterogeneous trait with about 100 gene localizations and 44 gene identifications for non-syndromic hearing loss. Transmembrane channel-like gene 1 (TMC1) has been identified as the disease-causing gene for autosomal dominant and autosomal recessive non-syndromic hearing loss at the DFNA36 and DFNB7/11 loci, respectively. To date, 2 dominant and 18 recessive TMC1 mutations have been reported as the cause of hearing loss in 34 families. In this report, we describe linkage to DFNA36 and DFNB7/11 in 1 family with dominant and 10 families with recessive non-syndromic sensorineural hearing loss. In addition, mutation analysis of TMC1 was performed in 51 familial Turkish patients with autosomal recessive hearing loss. TMC1 mutations were identified in seven of the families segregating recessive hearing loss. The pathogenic variants we found included two known mutations, c.100C>T and c.1165C>T, and four new mutations, c.2350C>T, c.776+1G>A, c.767delT and c.1166G>A. The absence of TMC1 mutations in the remaining six linked families implies the presence of mutations outside the coding region of this gene or alternatively at least one additional deafness-causing gene in this region. The analysis of copy number variations in TMC1 as well as DNA sequencing of 15 additional candidate genes did not reveal any proven pathogenic changes, leaving both hypotheses open.
Clinical Genetics – Wiley
Published: Sep 1, 2008
Keywords: DFNA36; DFNB7/11; sensorineural hearing loss; TMC1
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.