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PURPOSE To determine the spectrum of mutations and phenotypic variability within patients with mutations in membrane-type frizzled related protein gene (MFRP). METHODS Individuals were initially ascertained based on a phenotype similar to that previously published in association with MFRP mutations. Affected patients underwent a full ophthalmic(More)
PURPOSE The aim of this study was to report detailed genotype/phenotype correlation in two British autosomal dominant retinitis pigmentosa (adRP) families with recently described mutations in PRPF8. METHODS Ten affected members from the two families (excluded for PRPF31 mutations) were assessed clinically. Seven subjects had fundus photography; some had(More)
PURPOSE. This study sets out to identify novel mutations in PRPF31 in a cohort of autosomal dominant retinitis pigmentosa (adRP) patients with a history of nonpenetrance in the family. METHODS. Twenty-one patients with history of nonpenetrant autosomal dominant retinitis pigmentosa were selected; all underwent full ophthalmic examination. Multiplex(More)
Congenital generalized lipodystrophy (CGL) is an autosomal recessive metabolic syndrome with involvement of multiple organs. Mutations in BSCL2 are known to be associated with a severe form of CGL and mental retardation (MR). The genetic heterogeneity in CGL patients is accompanied by phenotypic heterogeneity in different ethnic groups. Studies in the(More)
PRPF8-retinitis pigmentosa is said to be severe but there has been no overview of phenotype across different mutations. We screened RP patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first de novo mutation. This brings the known RP-causing mutations in PRPF8 to(More)
R etinitis pigmentosa (RP) is a heterogeneous group of monogenic retinal disorders characterized by progressive rod and then cone pho-toreceptor degeneration. Although female carriers of mutations in the X-linked genes RP2 and RP3 show asymmetry, cases due to mutations of autosomal genes show a high degree of symmetry between eyes. Patients with unilateral(More)
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