ArticleHuman genetics2008
Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14.
Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.Nature genetics · 2012Pooled it
- Pseudodominant Nanophthalmos in a Roma Family Caused by a NovelJournal of ophthalmology · 2020Article
- Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.Human genetics · 2019Article
- Nanophthalmos: A Review of the Clinical Spectrum and Genetics.Journal of ophthalmology · 2018Review
- Whole-genome copy number variation analysis in anophthalmia and microphthalmia.Clinical genetics · 2013Article
- Molecular genetics in glaucoma.Experimental eye research · 2011Review
- Mutations in a novel serine protease PRSS56 in families with nanophthalmos.Molecular vision · 2011Article
- Glaucoma: genes, phenotypes, and new directions for therapy.The Journal of clinical investigation · 2010Review
- A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.Human genetics · 2009Article
- Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China.Molecular vision · 2009Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microphthalmia is a clinically and genetically heterogeneous disorder of eye development. The genetic basis of nonsyndromic microphthalmia is not yet fully understood. Previous studies indicated that disease pedigrees from different genetic backgrounds could be attributed to completely different gene loci. To investigate the etiology in a large autosomal-dominant inherited simple microphthalmia (nanophthalmia) pedigree, which is the first genetically analyzed Chinese microphthalmia pedigree, we performed a whole-genome scan using 382 micro-satellite DNA markers after the exclusion of reported candidates associated with microphthalmia. Strong evidence indicated that microphthalmia in this family was mapped to an unreported new locus on chromosome 2q. A significantly positive two-point LOD score was obtained with a maximum 3.290 at a recombination fraction of 0.00 for marker D2S2265. Subsequent haplotype analysis and recombination data further confined the disease-causing gene to a 15-cM interval between D2S1890 and D2S347 on 2q11-14. Our results further underlined the degree of heterogeneity in microphthalmia from Chinese background and localized a novel gene which regulates eye embryogenesis.
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