caa a22 4500 397573871 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199612 xx s 000 0 eng 10.1093/hmg/5.12.2055 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.12.2055 Mapping of DFN2 to Xq22 [Elektronische Daten] Non-syndromic X-linked deafness is a rare form of genetic deafness accounting for a small proportion of all hereditary hearing loss. It is both clinically and genetically heterogeneous and five loci have been described to date but only two of these have been mapped. DFN2 represents a locus for congenital profound sensorineural hearing loss that has yet to be mapped. We describe a four generation family with this phenotype in which female carriers have a mild/moderate hearing loss affecting the high frequencies. The mutant gene has been mapped to Xq22 using polymorphic microsatellite markers. A maximum two point lod score of 2.91 at θ = 0 was observed with a fully informative dinucleotide repeat at COL4A5, and flanking recombinations were observed at DXS990 and DXS1001. © 1993 Oxford University Press Tyson Jessica Units of Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford Street, London, UK Bellman Sue Department of Audiological Medicine, Great Ormond Street Hospital NHS Trust, London, UK Newton Valerie CAEDSP, University of Manchester, Manchester, UK Simpson Pat Childrens Hearing Services, Park Centre, Hindley, Wigan, UK Malcolm Sue Units of Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford Street, London, UK Pembrey Marcus E. Units of Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford Street, London, UK Bitner-Glindzicz Maria Units of Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford Street, London, UK Human Molecular Genetics Oxford University Press 5/12(1996-12), 2055-2060 0964-6906 5:12<2055 1996 5 hmg https://doi.org/10.1093/hmg/5.12.2055 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.12.2055 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Tyson Jessica Units of Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford Street, London, UK NATIONALLICENCE 700 1- Bellman Sue Department of Audiological Medicine, Great Ormond Street Hospital NHS Trust, London, UK NATIONALLICENCE 700 1- Newton Valerie CAEDSP, University of Manchester, Manchester, UK NATIONALLICENCE 700 1- Simpson Pat Childrens Hearing Services, Park Centre, Hindley, Wigan, UK NATIONALLICENCE 700 1- Malcolm Sue Units of Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford Street, London, UK NATIONALLICENCE 700 1- Pembrey Marcus E. Units of Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford Street, London, UK NATIONALLICENCE 700 1- Bitner-Glindzicz Maria Units of Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford Street, London, UK NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/12(1996-12), 2055-2060 0964-6906 5:12<2055 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