Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity
- PMID: 9199568
- PMCID: PMC1716120
- DOI: 10.1086/515458
Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity
Erratum in
- Am J Hum Genet 1997 Aug;61(2):471
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.
Comment in
-
LOD scores, location scores, and X-linked cone dystrophy.Am J Hum Genet. 1998 Sep;63(3):900-1. doi: 10.1086/301995. Am J Hum Genet. 1998. PMID: 9718326 Free PMC article. No abstract available.
Similar articles
-
DNA carrier detection in X-linked progressive cone dystrophy.Clin Genet. 1994 May;45(5):236-40. doi: 10.1111/j.1399-0004.1994.tb04148.x. Clin Genet. 1994. PMID: 8076408
-
LOD scores, location scores, and X-linked cone dystrophy.Am J Hum Genet. 1998 Sep;63(3):900-1. doi: 10.1086/301995. Am J Hum Genet. 1998. PMID: 9718326 Free PMC article. No abstract available.
-
A new genetic locus for X linked progressive cone-rod dystrophy.J Med Genet. 2003 Jun;40(6):418-23. doi: 10.1136/jmg.40.6.418. J Med Genet. 2003. PMID: 12807962 Free PMC article.
-
X-linked cone dystrophy.Doc Ophthalmol. 1988 Oct-Nov;70(2-3):195-8. doi: 10.1007/BF00154453. Doc Ophthalmol. 1988. PMID: 3234184
-
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene.Neuromuscul Disord. 1992;2(2):111-5. doi: 10.1016/0960-8966(92)90042-5. Neuromuscul Disord. 1992. PMID: 1422197 Review.
Cited by
-
Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.JAMA Ophthalmol. 2013 Aug;131(8):1016-25. doi: 10.1001/jamaophthalmol.2013.120. JAMA Ophthalmol. 2013. PMID: 23681342 Free PMC article.
-
The cone dysfunction syndromes.Br J Ophthalmol. 2004 Feb;88(2):291-7. doi: 10.1136/bjo.2003.027102. Br J Ophthalmol. 2004. PMID: 14736794 Free PMC article. Review.
-
Instability in X chromosome inactivation patterns in AMD: a new risk factor?Med Hypothesis Discov Innov Ophthalmol. 2013 Fall;2(3):74-82. Med Hypothesis Discov Innov Ophthalmol. 2013. PMID: 24600647 Free PMC article. Review.
-
X-linked cone dystrophy caused by mutation of the red and green cone opsins.Am J Hum Genet. 2010 Jul 9;87(1):26-39. doi: 10.1016/j.ajhg.2010.05.019. Epub 2010 Jun 24. Am J Hum Genet. 2010. PMID: 20579627 Free PMC article.
-
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.Am J Hum Genet. 2002 Apr;70(4):1049-53. doi: 10.1086/339620. Epub 2002 Feb 20. Am J Hum Genet. 2002. PMID: 11857109 Free PMC article.
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical