Literature DB >> 15240907

Refinement of the locus for non-syndromic sensorineural deafness (DFN2).

Bin Cui1, Haibing Zhang, Yongzhong Lu, Wei Zhong, Gang Pei, Xiangyin Kong, Landian Hu.   

Abstract

Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary hearing loss. Different clinical forms of non-syndromic X-linked deafness have been described, and most of these have been mapped. Here, we report a Chinese family affected by a congenital profound sensorineural hearing loss. All phenotypes of this family are clinically compatible with non-syndromic sensorineural deafness (DFN2). A maximum two-point Lod score of 2.32 was obtained at marker DXS6797 (theta = 0.00). Recombinants define a region of 4.3 cM flanked by markers DXS6799 and GATA172D05. This region overlaps the previously reported DFN2 region by 2.0 cM.

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Year:  2004        PMID： 15240907     DOI： 10.1007/BF02715827

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


  16 in total

1.  The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.

Authors:  H G Brunner; A van Bennekom; E M Lambermon; T L Oei; W R Cremers; B Wieringa; H H Ropers
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

2.  Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.

Authors:  E N Manolis; R D Eavey; S Sangwatanaroj; C Halpin; S Rosenbaum; H Watkins; J Jarcho; C E Seidman; J G Seidman
Journal:  Am J Otol       Date:  1999-09

3.  Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

Authors:  Y J de Kok; E R Vossenaar; C W Cremers; N Dahl; J Laporte; L J Hu; D Lacombe; N Fischel-Ghodsian; R A Friedman; L S Parnes; P Thorpe; M Bitner-Glindzicz; H J Pander; H Heilbronner; J Graveline; J T den Dunnen; H G Brunner; H H Ropers; F P Cremers
Journal:  Hum Mol Genet       Date:  1996-09       Impact factor: 6.150

4.  X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

Authors:  C Wallis; R Ballo; G Wallis; P Beighton; J Goldblatt
Journal:  Genomics       Date:  1988-11       Impact factor: 5.736

5.  Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

Authors:  N Dahl; J Laporte; L Hu; V Biancalana; D Le Palier; D Cohen; C Piussan; J L Mandel
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

Review 6.  A high risk registry to find congenital deafness.

Authors:  L Bergstrom; W G Hemenway; M P Downs
Journal:  Otolaryngol Clin North Am       Date:  1971-06       Impact factor: 3.346

7.  A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Authors:  L Tranebjaerg; C Schwartz; H Eriksen; S Andreasson; V Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

8.  A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

Authors:  H Jin; M May; L Tranebjaerg; E Kendall; G Fontán; J Jackson; S H Subramony; F Arena; H Lubs; S Smith; R Stevenson; C Schwartz; D Vetrie
Journal:  Nat Genet       Date:  1996-10       Impact factor: 38.330

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

10.  A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

Authors:  A K Lalwani; J R Brister; J Fex; K M Grundfast; A T Pikus; B Ploplis; T San Agustin; H Skarka; E R Wilcox
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025
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  5 in total

1.  DXS6797 contains two STRs which can be easily haplotyped in both sexes.

Authors:  Micaela Poetsch; Antje Repenning; Eberhard Lignitz; Eberhard Kuhlisch; Reinhard Szibor
Journal:  Int J Legal Med       Date:  2005-08-25       Impact factor: 2.686

Review 2.  PRPS1 mutations: four distinct syndromes and potential treatment.

Authors:  Arjan P M de Brouwer; Hans van Bokhoven; Sander B Nabuurs; Willem Frans Arts; John Christodoulou; John Duley
Journal:  Am J Hum Genet       Date:  2010-04-09       Impact factor: 11.025

3.  Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Authors:  Marta Gandía; Joaquín Fernández-Toral; Juan Solanellas; María Domínguez-Ruiz; Elena Gómez-Rosas; Francisco J Del Castillo; Manuela Villamar; Miguel A Moreno-Pelayo; Ignacio Del Castillo
Journal:  Pediatr Res       Date:  2015-03-18       Impact factor: 3.756

4.  Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

Authors:  Xuezhong Liu; Dongyi Han; Jianzhong Li; Bing Han; Xiaomei Ouyang; Jing Cheng; Xu Li; Zhanguo Jin; Youqin Wang; Maria Bitner-Glindzicz; Xiangyin Kong; Heng Xu; Albena Kantardzhieva; Roland D Eavey; Christine E Seidman; Jonathan G Seidman; Li L Du; Zheng-Yi Chen; Pu Dai; Maikun Teng; Denise Yan; Huijun Yuan
Journal:  Am J Hum Genet       Date:  2010-01       Impact factor: 11.025

Review 5.  Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Authors:  Xue Zhong Liu; Dinghua Xie; Hui Jun Yuan; Arjan P M de Brouwer; John Christodoulou; Denise Yan
Journal:  Int J Audiol       Date:  2012-11-28       Impact factor: 2.117
  5 in total

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