ArticleJournal of medical genetics2006
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- Managing the posterior polar cataract: An update.Indian journal of ophthalmology · 2017Review
- Quantitative Trait Locus Analysis of SIX1-SIX6 With Retinal Nerve Fiber Layer Thickness in Individuals of European Descent.American journal of ophthalmology · 2015Observational
- A new locus in chromosome 2q37-qter is associated with posterior polar cataract.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2012Article
- Posterior polar cataract: A review.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2012Article
- Cat-Map: putting cataract on the map.Molecular vision · 2010Review
- A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.Molecular vision · 2010Article
- Advancement of congenital cataract in the responsible gene.International journal of ophthalmology · 2010Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundPosterior polar cataract is a clinically distinctive opacity located at the back of the lens. It is commonly acquired in age related cataract, and may infrequently occur in pedigrees with congenital cataract. To date, five loci for autosomal dominant congenital posterior polar cataract have been identified. These include two genes, CRYAB and PITX3, on chromosomes 11q and 10q respectively, and three loci with as yet unknown genes on chromosomes 1p, 16q and 20p. PURPOSE: To find the chromosomal location of a gene causing autosomal dominant congenital posterior polar cataract in three Moroccan Jewish families.
methodsA whole genome scan was performed using microsatellite markers spaced at approximately 10 cM intervals. For fine mapping, five additional microsatellite markers were genotyped. Two-point lod scores were calculated using MLINK software, from the LINKAGE program package. After linkage was established, several positional candidate genes were assessed by PCR based DNA sequencing.
resultsThe new cataract locus was mapped to an 11.3 cM interval between D14S980 and D14S1069 on chromosome 14q22-23. A maximum two point lod score of 5.19 at theta = 0 was obtained with the markersD14S274. The positional and functional candidate genes SIX1, SIX4, SIX6, OTX2, and ARHJ were excluded as the cause of cataract in these families.
conclusionAn as yet unidentified gene associated with posterior polar cataract maps to the long arm of chromosome 14q22-23.
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