Literature DB >> 9199568

Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity.

A A Bergen1, A J Pinckers.   

Abstract

Clinical reexamination and DNA linkage analysis were carried out in an X-linked progressive cone dystrophy (XLPCD) family, previously described by Pinckers and Timmerman in 1981. In a large pedigree segregating XLPCD, by use of > or = 27 markers spanning the entire X chromosome, a novel locus for XLPCD was identified in Xq27. All other regions on the chromosome could be excluded. Since this novel locus is distinct from previously identified genes or regions involved in XLPCD, we further establish genetic heterogeneity underlying this disease entity.

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Year:  1997        PMID： 9199568      PMCID： PMC1716120          DOI： 10.1086/515458

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  13 in total

1.  Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.

Authors:  A A Bergen; C Samanns; E J Schuurman; L van Osch; D B van Dorp; A J Pinckers; E Bakker; A Gal; G J van Ommen; E M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

2.  Molecular genetics of human blue cone monochromacy.

Authors:  J Nathans; C M Davenport; I H Maumenee; R A Lewis; J F Hejtmancik; M Litt; E Lovrien; R Weleber; B Bachynski; F Zwas
Journal:  Science       Date:  1989-08-25       Impact factor: 47.728

3.  X linked progressive cone dystrophy with specific attention to carrier detection.

Authors:  J A van Everdingen; L N Went; J E Keunen; J A Oosterhuis
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

4.  X-linked cone dystrophy.

Authors:  C Verdoorn; A Pinckers
Journal:  Doc Ophthalmol       Date:  1988 Oct-Nov       Impact factor: 2.379

5.  An electroretinographic and molecular genetic study of X-linked cone degeneration.

Authors:  E Reichel; A M Bruce; M A Sandberg; E L Berson
Journal:  Am J Ophthalmol       Date:  1989-11-15       Impact factor: 5.258

6.  Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus.

Authors:  J A Fleischman; F E O'Donnell
Journal:  Arch Ophthalmol       Date:  1981-03

7.  Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1).

Authors:  H K Hong; R E Ferrell; M B Gorin
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

8.  X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis.

Authors:  F M Meire; A A Bergen; A De Rouck; M Leys; J W Delleman
Journal:  Br J Ophthalmol       Date:  1994-02       Impact factor: 4.638

9.  X-linked cone dystrophy. An overlooked diagnosis?

Authors:  A Pinckers; A F Deutman
Journal:  Int Ophthalmol       Date:  1987-08       Impact factor: 2.031

10.  X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers.

Authors:  D M Jacobson; H S Thompson; J A Bartley
Journal:  Ophthalmology       Date:  1989-06       Impact factor: 12.079
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  12 in total

1.  X-linked cone dystrophy caused by mutation of the red and green cone opsins.

Authors:  Jessica C Gardner; Tom R Webb; Naheed Kanuga; Anthony G Robson; Graham E Holder; Andrew Stockman; Caterina Ripamonti; Neil D Ebenezer; Olufunmilola Ogun; Sophie Devery; Genevieve A Wright; Eamonn R Maher; Michael E Cheetham; Anthony T Moore; Michel Michaelides; Alison J Hardcastle
Journal:  Am J Hum Genet       Date:  2010-06-24       Impact factor: 11.025

2.  X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.

Authors:  R Jalkanen; M Mäntyjärvi; R Tobias; J Isosomppi; E-M Sankila; T Alitalo; N T Bech-Hansen
Journal:  J Med Genet       Date:  2006-02-27       Impact factor: 6.318

3.  X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

Authors:  F Yesim K Demirci; Brian W Rigatti; Gaiping Wen; Amy L Radak; Tammy S Mah; Corrine L Baic; Elias I Traboulsi; Tiina Alitalo; Juliane Ramser; Michael B Gorin
Journal:  Am J Hum Genet       Date:  2002-02-20       Impact factor: 11.025

4.  Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.

Authors:  A Melamud; G-Q Shen; D Chung; Q Xi; E Simpson; L Li; N S Peachey; H Zegarra; S A Hagstrom; Q K Wang; E I Traboulsi
Journal:  J Med Genet       Date:  2006-06       Impact factor: 6.318

5.  A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

Authors:  L Gieser; R Fujita; H H Göring; J Ott; D R Hoffman; A V Cideciyan; D G Birch; S G Jacobson; A Swaroop
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

Review 6.  The cone dysfunction syndromes.

Authors:  M Michaelides; D M Hunt; A T Moore
Journal:  Br J Ophthalmol       Date:  2004-02       Impact factor: 4.638

7.  Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

Authors:  Sarwar Zahid; Naheed Khan; Kari Branham; Mohammad Othman; Athanasios J Karoukis; Nisha Sharma; Ashley Moncrief; Mahdi N Mahmood; Paul A Sieving; Anand Swaroop; John R Heckenlively; Thiran Jayasundera
Journal:  JAMA Ophthalmol       Date:  2013-08       Impact factor: 7.389

8.  A new genetic locus for X linked progressive cone-rod dystrophy.

Authors:  R Jalkanen; F Y Demirci; H Tyynismaa; T Bech-Hansen; A Meindl; M Peippo; M Mäntyjärvi; M B Gorin; T Alitalo
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

9.  A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

Authors:  Jan Hauke; Andrea Schild; Antje Neugebauer; Alexandra Lappa; Julia Fricke; Sascha Fauser; Stefanie Rösler; Andrea Pannes; Dirk Zarrinnam; Janine Altmüller; Susanne Motameny; Gudrun Nürnberg; Peter Nürnberg; Eric Hahnen; Bodo B Beck
Journal:  PLoS One       Date:  2013-10-04       Impact factor: 3.240

10.  Clinical course of cone dystrophy caused by mutations in the RPGR gene.

Authors:  Alberta A H J Thiadens; Gyan G Soerjoesing; Ralph J Florijn; A G Tjiam; Anneke I den Hollander; L Ingeborgh van den Born; Frans C Riemslag; Arthur A B Bergen; Caroline C W Klaver
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2011-08-25       Impact factor: 3.117
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