temperature-sensitive auditory neuropathy allele Running Title : A potential OTOF temperature-sensitive allele

Running Title: A potential OTOF temperature-sensitive allele Renee Varga, Matthew R. Avenarius Philip M. Kelley, Bronya J. Keats, Charles I. Berlin, Linda J. Hood , Thierry G. Morlet, Shanda M. Brashears, Arnold Starr, Edward S. Cohn, Richard J. H. Smith, and William J. Kimberling 1) Center for Hereditary Communication Disorders, Boys Town National Research Hospital (BTNRH), Omaha, NE, USA; 2) Current affiliation: National Human Genome Research Institute, NIH, Bethesda, MD, USA; 3) Molecular Otolaryngology Research Laboratory, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA; 4) Department of Genetics, LSU Health Sciences Center, New Orleans, LA, USA; 5) Department of Otorhinolaryngology, LSU Health Sciences Center, New Orleans, LA, USA; 6) Department of Neurology, University of California, Irvine, CA, USA; 7) Current affiliation: Hearing and Speech Sciences Department, Vanderbilt Bill Wilkerson Center, Vanderbilt University Medical Center, Nashville, TN, USA; 8) Current affiliation: Auditory Physiology and Psychoacoustics Laboratory, A.I. duPont Hospital for Children, Wilmington, DE, USA; 9) Current affiliation: Audiology Clinic, A.I. duPont Hospital for Children, Wilmington, DE, USA. Corresponding Author: Philip M. Kelley, Ph.D., BTNRH Genetics Dept. 555 N. 30 St. Omaha, NE 68131. Phone: 402 498 6385 Fax: 402 498 6331 E-mail: Kelley@boystown.org

[1]  M. Tekin,et al.  A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy , 2005, American journal of medical genetics. Part A.

[2]  T. Kirchhausen,et al.  An emergency response team for membrane repair , 2005, Nature Reviews Molecular Cell Biology.

[3]  Y. Harabuchi,et al.  Cochlear implantation in an adult patient with auditory neuropathy , 2005, European Archives of Oto-Rhino-Laryngology and Head & Neck.

[4]  J. Wu,et al.  Cochlear implantation in a Mandarin Chinese-speaking child with auditory neuropathy , 2005, European Archives of Oto-Rhino-Laryngology and Head & Neck.

[5]  J. Shallop,et al.  Characteristics of electrically evoked potentials in patients with auditory neuropathy/auditory dys-synchrony. , 2004, International journal of audiology.

[6]  K. Arndt,et al.  Coiled Coil Domains: Stability, Specificity, and Biological Implications , 2004, Chembiochem : a European journal of chemical biology.

[7]  F. Moreno,et al.  Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF) , 2003, Human mutation.

[8]  C. Berlin,et al.  Patients with auditory neuropathy/dys-synchrony lack efferent suppression of transient evoked otoacoustic emissions. , 2003, Journal of the American Academy of Audiology.

[9]  K. Cryns,et al.  Nonsyndromic Hearing Loss , 2003, Ear and hearing.

[10]  E. Salido,et al.  Primary hyperoxaluria type 1 in the Canary Islands: A conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[11]  Chien-Chang Chen,et al.  Defective membrane repair in dysferlin-deficient muscular dystrophy , 2003, Nature.

[12]  R. Stoeckel,et al.  Outcomes of cochlear implantation in children with auditory neuropathy. , 2003, Journal of the American Academy of Audiology.

[13]  G. Hashisaki,et al.  Cochlear Implantation in Patients With Auditory Neuropathy of Varied Etiologies , 2003, The Laryngoscope.

[14]  S. Leal,et al.  Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene , 2003, Journal of medical genetics.

[15]  F. Moreno,et al.  Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss , 2002, Journal of medical genetics.

[16]  C. Petit,et al.  Substitutions in the Conserved C2C Domain of Otoferlin Cause DFNB9, a Form of Nonsyndromic Autosomal Recessive Deafness , 2002, Neurobiology of Disease.

[17]  V. Lingappa,et al.  Integral membrane protein biosynthesis: why topology is hard to predict. , 2002, Journal of cell science.

[18]  D. Choo,et al.  Pediatric Cochlear Implantation in Auditory Neuropathy , 2002, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

[19]  L. Al-Gazali,et al.  A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterisedOTOF long isoforms , 2001, Journal of medical genetics.

[20]  K. Bushby,et al.  The third human FER-1-like protein is highly similar to dysferlin. , 2000, Genomics.

[21]  C. Petit,et al.  OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. , 2000, American journal of human genetics.

[22]  C. Petit,et al.  Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus , 2000, European Journal of Human Genetics.

[23]  Y. Sininger,et al.  Cochlear implantation of auditory neuropathy. , 2000, Journal of the American Academy of Audiology.

[24]  M. Marks,et al.  A Common Temperature-sensitive Allelic Form of Human Tyrosinase Is Retained in the Endoplasmic Reticulum at the Nonpermissive Temperature* , 2000, The Journal of Biological Chemistry.

[25]  R. Shepherd,et al.  Clinical findings for a group of infants and young children with auditory neuropathy. , 1999, Ear and hearing.

[26]  M. Cohen-Salmon,et al.  A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness , 1999, Nature Genetics.

[27]  J. Gitlin,et al.  Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[28]  A. Starr,et al.  Transient Deafness Due To Temperature‐Sensitive Auditory Neuropathy , 1998, Ear and Hearing.

[29]  J. Wahlberg,et al.  Multiple Determinants Direct the Orientation of Signal–Anchor Proteins: The Topogenic Role of the Hydrophobic Signal Domain , 1997, The Journal of cell biology.

[30]  A. Lupas Coiled coils: new structures and new functions. , 1996, Trends in biochemical sciences.

[31]  J. Weissenbach,et al.  A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p. , 1995, Genomics.

[32]  C. Berlin,et al.  Contralateral Suppression of Otoacoustic Emissions: An Index of the Function of the Medial Olivocochlear System , 1994 .

[33]  S. Neely,et al.  Otoacoustic emissions in an adult with severe hearing loss. , 1991, Journal of speech and hearing research.

[34]  D W Worthington,et al.  Quantifiable hearing and no ABR: paradox or error? , 1980, Ear and hearing.

[35]  Peer Bork,et al.  Recent improvements to the SMART domain-based sequence annotation resource , 2002, Nucleic Acids Res..

[36]  A. Starr,et al.  The Varieties of Auditory Neuropathy , 2000, Journal of basic and clinical physiology and pharmacology.

[37]  H. Davis,et al.  A slow brain stem response for low-frequency audiometry. , 1979, Audiology : official organ of the International Society of Audiology.