Literature DB >> 2904400

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

H G Brunner1, A van Bennekom, E M Lambermon, T L Oei, W R Cremers, B Wieringa, H H Ropers.   

Abstract

A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located at Xq13. Tight linkage was excluded for DXS9 (probe RC8) and DXS41 (probe 99.6) on Xp and for blood clotting factor 9 (FIX) on distal Xq. Deafness is one of the predominant clinical features in males with deletions of the Xq21 band. Our results suggest that this association may be due to involvement of the DFN3 gene.

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Year:  1988        PMID： 2904400     DOI： 10.1007/BF00273647

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  X-linked deafness in a South African kindred.

Authors:  P Thorpe; S Sellars; P Beighton
Journal:  S Afr Med J       Date:  1974-03-23

2.  X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.

Authors:  W E Nance; R Setleff; A McLeod; A Sweeney; C Cooper; F McConnell
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

3.  Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery).

Authors:  C W Cremers; P L Huygen
Journal:  Int J Pediatr Otorhinolaryngol       Date:  1983-11       Impact factor: 1.675

4.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

5.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

6.  Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes gusher.

Authors:  C W Cremers
Journal:  Am J Otol       Date:  1985-05

7.  Choroideremia, obesity, and congenital deafness.

Authors:  S Ayazi
Journal:  Am J Ophthalmol       Date:  1981-07       Impact factor: 5.258

8.  Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.

Authors:  G R Fraser
Journal:  Ann Hum Genet       Date:  1965-11       Impact factor: 1.670

9.  X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.

Authors:  C W Cremers; G C Hombergen; J J Scaf; P L Huygen; W S Volkers; A J Pinckers
Journal:  Arch Otolaryngol       Date:  1985-04

10.  Deletion of the DXS165 locus in patients with classical choroideremia.

Authors:  F P Cremers; F Brunsmann; T J van de Pol; I H Pawlowitzki; K Paulsen; B Wieringa; H H Ropers
Journal:  Clin Genet       Date:  1987-12       Impact factor: 4.438
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  17 in total

1.  Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56.

Authors:  M B Graeber; A P Monaco; J Chelly; U Müller
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome.

Authors:  D Robinson; M Lamont; G Curtis; D C Shields; P Phelps
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

3.  Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.

Authors:  I Bach; D Robinson; N Thomas; H H Ropers; F P Cremers
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

4.  The genetics of deafness.

Authors:  W Reardon; M Pembrey
Journal:  Arch Dis Child       Date:  1990-11       Impact factor: 3.791

5.  Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Authors:  I Bach; H G Brunner; P Beighton; R H Ruvalcaba; W Reardon; M E Pembrey; S D van der Velde-Visser; G A Bruns; C W Cremers; F P Cremers
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

6.  A new taqI RFLP at the DXS17 locus (S9) in the black population.

Authors:  I J Pancoast; K P Anderson
Journal:  Nucleic Acids Res       Date:  1990-05-11       Impact factor: 16.971

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.  Sex linked deafness: Wilde revisited.

Authors:  W Reardon
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

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

Authors:  Bin Cui; Haibing Zhang; Yongzhong Lu; Wei Zhong; Gang Pei; Xiangyin Kong; Landian Hu
Journal:  J Genet       Date:  2004-04       Impact factor: 1.166

10.  Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

Authors:  Y Shiloh; G Litvak; Y Ziv; T Lehner; L Sandkuyl; M Hildesheimer; V Buchris; F P Cremers; P Szabo; B N White
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025
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