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AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23–27.3
  1. Q J Wang*,1,
  2. Q Z Li*,3,
  3. S Q Rao*,4,
  4. K Lee5,
  5. X S Huang6,
  6. W Y Yang1,
  7. S Q Zhai1,
  8. W W Guo1,
  9. Y F Guo7,
  10. N Yu1,
  11. Y L Zhao1,
  12. H Yuan1,
  13. J Guan7,
  14. S M Leal5,
  15. D Y Han1,
  16. Y Shen2
  1. 1Department of Otorhinolaryngology/Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China
  2. 2Chinese National Human Genome Centre, Beijing 100176, China
  3. 3Department of Otolaryngology, The Eye and ENT Hospital of Fudan University, 83 Fenyang Road, Shanghai 200031, China
  4. 4Departments of Cardiovascular Medicine and Molecular Cardiology, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA
  5. 5Department of Molecular and Human Genetics, Baylor College of Medicine, Alkek Building N1619.01, One Baylor Plaza, Houston, TX 77030, USA
  6. 6Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China
  7. 7Department of Otorhinolaryngology/Head and Neck Surgery, The Second Affiliated Hospital of Lanzhou University, Lanzhou 730030, China
  1. Correspondence to:
 Professor Y Shen
 Chinese National Human Genome Centre, # 3–707, North Yongchang Road BDA, Beijing 100176, China; sheny{at}ms.imicams.ac.cn

Abstract

Background: We report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of auditory neuropathy and progressive peripheral sensory neuropathy, and the genetic feature of X linked recessive inheritance. Disease onset was at adolescence (at an average age of 13 years for six affected subjects). The degree of hearing impairment varied from mild to severe, with decreased otoacoustic emissions; auditory brainstem responses were lacking from onset.

Methods: Two-point and multipoint model based linkage analysis using the MILNK and LINKMAP programs of the FASTLINK software package produced maximum two-point and multipoint LOD scores of 2.41 and 2.41, respectively.

Results: These findings define a novel X linked auditory neuropathy locus/region (AUNX1, Xq23–q27.3). This region is 42.09 cM long and contains a 28.07 Mb region with flanking markers DXS1220 and DXS8084, according to the Rutgers Combined Linkage-Physical Map, build 35. However, mutation screen of the candidate gene SLC6A14 within the region did not identify the causative genetic determinant for this large Chinese family.

  • ABRs, auditory brainstem responses
  • AMPA, alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate
  • AN, auditory neuropathy
  • DPOAEs, distortion product otoacoustic emissions
  • MOS, medial olivocochlear systems
  • NSRAN, non-syndromic recessive auditory neuropathy
  • SLC, solute carrier family
  • SNAP, sensory nerve action potential
  • auditory neuropathy
  • AUNX1
  • Chinese pedigree
  • gene mapping
  • X linked recessive

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Footnotes

  • The first three authors (Q J Wang, Q Z Li, S Q Rao) contributed equally to this work

  • This work was supported by grants from the National High Tech Development Project (grant nos. 2004AA221080 and 2003AA205070), the National Natural Science Foundation of China (grant nos. 30370782, 30370798, 30470956, and 30570424), the Beijing Science Technology Project (grant no. H020220020610), the Foundation of National Excellent Doctoral Thesis (grant no. 2004No63), the Heilongjiang Province Department of Education Outstanding Overseas Scientist grant (grant no. 1055HG009), and the US National Institutes of Health National Institute of Deafness and Other Communication Disorders (grant no. R01-DC03594)

  • Conflicts of interests: none declared

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