Literature DB >> 8541856

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.

R E Kelsell1, B F Godley, K Evans, P A Tiffin, C Y Gregory, C Plant, A T Moore, A C Bird, D M Hunt.   

Abstract

Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. We have performed genetic linkage analysis on a five-generation British pedigree. Two-point linkage analysis showed significant linkage with nine microsatellite marker loci mapping to chromosome 6q. Multipoint analysis gave a maximum lod score of 11.8 (theta = 0.05) between D6S249 and D6S283. This region overlaps with that to which the gene for North Carolina macular dystrophy (MCDR1) has been assigned. However, given the range of differences in phenotype between these two retinal disorders, it is likely that different mutation mechanisms are responsible for each disease.

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Year:  1995        PMID： 8541856     DOI： 10.1093/hmg/4.9.1653

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  10 in total

1.  A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Authors:  S Dharmaraj; Y Li; J M Robitaille; E Silva; D Zhu; T N Mitchell; L P Maltby; A B Baffoe-Bonnie; I H Maumenee
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.

Authors:  A Ruiz; S Borrego; I Marcos; G Antiñolo
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 3.  Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

Authors:  A Iannaccone
Journal:  Doc Ophthalmol       Date:  2001-05       Impact factor: 2.379

4.  A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family.

Authors:  Z Yang; G Kitsos; Z Tong; M Payne; S Gorezis; K Psilas; M Grigoriadou; Y Zhao; S Kamaya; G Aperis; M B Petersen; K Zhang
Journal:  J Med Genet       Date:  2006-12       Impact factor: 6.318

5.  An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).

Authors:  C G Sauer; H D Schworm; M Ulbig; A Blankenagel; K Rohrschneider; D Pauleikhoff; T Grimm; B H Weber
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

6.  Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).

Authors:  A Gehrig; U Felbor; R E Kelsell; D M Hunt; I H Maumenee; B H Weber
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 7.  The genetics of inherited macular dystrophies.

Authors:  M Michaelides; D M Hunt; A T Moore
Journal:  J Med Genet       Date:  2003-09       Impact factor: 6.318

8.  Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss.

Authors:  P J Francis; S Johnson; B Edmunds; R E Kelsell; E Sheridan; C Garrett; G E Holder; D M Hunt; A T Moore
Journal:  Br J Ophthalmol       Date:  2003-07       Impact factor: 4.638

9.  Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q.

Authors:  M B Reichel; R E Kelsell; J Fan; C Y Gregory; K Evans; A T Moore; D M Hunt; F W Fitzke; A C Bird
Journal:  Br J Ophthalmol       Date:  1998-10       Impact factor: 4.638

10.  A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).

Authors:  Kent W Small; Stijn Van de Sompele; Karen Nuytemans; Andrea Vincent; Ozge Ozalp Yuregir; Emine Ciloglu; Cahfer Sariyildiz; Toon Rosseel; Jessica Avetisjan; Nitin Udar; Jeffery M Vance; Margaret A Pericak-Vance; Elfride De Baere; Fadi S Shaya
Journal:  Mol Vis       Date:  2021-09-01       Impact factor: 2.367
  10 in total

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