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Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions

23 Jun 2017

Abstract excerpt

A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen in a cohort of 106 BEST1/PRPH2-negative VMD patients in two genes encoding secreted interphotoreceptor matrix proteoglycans-1 and -2 (IMPG1 and IMPG2). We identified two novel mutations in IMPG1 in two simplex VMD...

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Identifiers

PMID: 28644393
DOI: 10.3390/genes8070170

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Related research

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Research trail→

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Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular LesionsPMID 28644393Read ↗

Mutations in IMPG1 cause vitelliform macular dystrophies.Semantic proximity Read ↗

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.Semantic proximity Read ↗

Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report.Semantic proximity Read ↗

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.Semantic proximity Read ↗

Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutationsSemantic proximity Read ↗

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.Semantic proximity Read ↗

Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.Semantic proximity Read ↗

Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family.Semantic proximity Read ↗

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations.Semantic proximity Read ↗

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.Semantic proximity Read ↗

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