caa a22 4500 397574754 CHVBK 20180308164852.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.1047 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.1047 A Gene for Non-Syndromic Autosomal Dominant Progressive Postlingual Sensorineural Hearing Loss Maps to Chromosome 14q12-13 [Elektronische Daten] [Evangelos N. Manolis, Naidu Yandavi, Joseph B. Nadol, Roland D. Eavey, Michael McKenna, Stella Rosenbaum, Uman Khetarpal, Christopher Halpin, Saumil N. Merchant, Geoffrey M. Duyk, Calum MacRae, Christine E. Seidman, J.G. Seidman, Evangelos N. Manolis, Naidu Yandavi, Joseph B. Nadol, Roland D. Eavey, Michael McKenna, Stella Rosenbaum, Uman Khetarpal, Christopher Halpin, Saumil N. Merchant, Geoffrey M. Duyk, Calum MacRae, Christine E. Seidman, J.G. Seidman] We report a novel locus responsible for postlingual progressive sensorineural hearing loss (designated DFNA9) that maps to chromosome 14q12-13. A large kindred with autosomal dominant transmission of non-syndromic hearing loss was clinically studied. Hearing in affected individuals deteriorated at ∼20 years of age and progressed to anacusis in the fifth decade. A random genome-wide search using polymorphic short tandem repeats demonstrated linkage with D14S121 (maximum two point LOD score = 6.19, θ=0). Haplotype analysis of recombination events defined a 9 cM disease interval, between D14S252 and D14S49. © 1996 Oxford University Press Manolis Evangelos N. Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut Yandavi Naidu Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut Nadol Joseph B. Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut Eavey Roland D. Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut McKenna Michael Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut Rosenbaum Stella Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut Khetarpal Uman Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut Halpin Christopher Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut Merchant Saumil N. Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut Duyk Geoffrey M. Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut MacRae Calum Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut Seidman Christine E. Department of Medicine and the Howard Hughes Medical Institute, Brigham and Womens Hospital and Harvard Medical School, Boston, MA 02115, USA aut Seidman J.G. Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 1047-1050 0964-6906 5:7<1047 1996 5 hmg https://doi.org/10.1093/hmg/5.7.1047 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.1047 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Manolis Evangelos N. Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut NATIONALLICENCE 700 1- Yandavi Naidu Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 700 1- Nadol Joseph B. Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut NATIONALLICENCE 700 1- Eavey Roland D. Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut NATIONALLICENCE 700 1- McKenna Michael Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut NATIONALLICENCE 700 1- Rosenbaum Stella Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 700 1- Khetarpal Uman Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut NATIONALLICENCE 700 1- Halpin Christopher Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut NATIONALLICENCE 700 1- Merchant Saumil N. Departments of Otolaryngology, Massachusetts Eye and Ear Infirmary and Otology and Laryngology, Harvard Medical School, Boston, MA 02114, USA aut NATIONALLICENCE 700 1- Duyk Geoffrey M. Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 700 1- MacRae Calum Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 700 1- Seidman Christine E. Department of Medicine and the Howard Hughes Medical Institute, Brigham and Womens Hospital and Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 700 1- Seidman J.G. Department of Genetics and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 1047-1050 0964-6906 5:7<1047 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford