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  • A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterisedOTOF long isoforms

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A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterisedOTOF long isoforms
  1. Mark J Housemana,
  2. Andrew P Jacksona,b,
  3. Lihadh I Al-Gazalic,
  4. Romina A Badina,
  5. Emma Robertsa,
  6. Robert F Muellerb
  1. aMolecular Medicine Unit, St James's University Hospital, Leeds LS9 7TF, UK, bDepartment of Clinical Genetics, St James's University Hospital, Leeds, UK, cDepartment of Paediatrics, Faculty of Medicine and Health Science, UAE University, Al Ain, UAE
  1. M Houseman, markyhouse{at}hotmail.com

https://doi.org/10.1136/jmg.38.8.e25

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    Editor—Around 1 in 1000 children is born or presents in early childhood with a severe hearing impairment.1 2 In developed countries, approximately 50% of these cases are attributed to genetic causes and the majority are non-syndromic with an autosomal recessive mode of transmission.3 Childhood onset non-syndromic sensorineural hearing loss (NSSNHL) is almost exclusively monogenic. This has facilitated the mapping of over 25 autosomal recessive NSSNHL loci (assigned DFNB) (Hearing Loss Homepage,http://hgins.uia.ac.be/dnalab/hhh). More recently, positional cloning and candidate gene screening strategies have led to the identification of 10 NSSNHL genes (Hearing Loss Homepage).

    Material and methods

    We ascertained a consanguineous family from the United Arab Emirates (UAE) comprising five subjects with severe-profound prelingual NSSNHL. Genomic DNA was extracted from peripheral blood samples using standard non-organic procedures. A genome wide search using the CHLC/Weber Human Screening set, version 8 (Research Genetics) was undertaken. PCR reactions were performed according to the manufacturer's instructions. This defined a ∼13 cM autozygous region on chromosome 2p23, delimited by the microsatellite markers D2S272 and D2S2347. The linkage interval …

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