Literature DB >> 1362559

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

D Robinson1, M Lamont, G Curtis, D C Shields, P Phelps.   

Abstract

Linkage analysis has been carried out in a family with severe congenital sensorineural deafness with a structural abnormality of the inner ear. Recombinations show the gene responsible for deafness in this family to lie between the loci DXS255 (Xp11.22) and DXS94 (Xq22). Close linkage was found to locus DXS159 (cpX289) in Xq12, with a LOD score of 3.155 and 0 recombination. This location is consistent with other linkage studies of X-linked deafness.

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Mesh：

Year:  1992        PMID： 1362559     DOI： 10.1007/bf00220090

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


  8 in total

1.  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

2.  Standard maps of chromosome 10.

Authors:  N E Morton; A Collins
Journal:  Ann Hum Genet       Date:  1990-07       Impact factor: 1.670

3.  X-linked deafness, stapes gushers and a distinctive defect of the inner ear.

Authors:  P D Phelps; W Reardon; M Pembrey; S Bellman; L Luxom
Journal:  Neuroradiology       Date:  1991       Impact factor: 2.804

4.  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

5.  Report of the committee on linkage and gene order.

Authors:  B Keats; J Ott; M Conneally
Journal:  Cytogenet Cell Genet       Date:  1989

6.  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

7.  A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.

Authors:  W Reardon; H R Middleton-Price; L Sandkuijl; P Phelps; S Bellman; L Luxon; M E Pembrey; S Malcolm
Journal:  Genomics       Date:  1991-12       Impact factor: 5.736

8.  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
  8 in total
  4 in total

1.  Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.

Authors:  D A Scott; R Carmi; K Elbedour; G M Duyk; E M Stone; V C Sheffield
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

2.  Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.

Authors:  M Bitner-Glindzicz; Y de Kok; D Summers; I Huber; F P Cremers; H H Ropers; W Reardon; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

3.  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

4.  Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.

Authors:  Silvia Naranjo; Krysta Voesenek; Elisa de la Calle-Mustienes; Alex Robert-Moreno; Haris Kokotas; Maria Grigoriadou; John Economides; Guy Van Camp; Nele Hilgert; Felipe Moreno; Berta Alsina; Michael B Petersen; Hannie Kremer; José Luis Gómez-Skarmeta
Journal:  Hum Genet       Date:  2010-07-29       Impact factor: 4.132
  4 in total

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