Mutation Screen of the Membrane-Type Frizzled-Related Protein (MFRP) Gene in Patients with Inherited Retinal Degenerations

MFRP is a member of the frizzled-related protein family and contains a cysteine-rich domain essential for Wnt binding and signaling. MFRP is highly expressed in the retinal pigment epithelial cells of the eye. A splice donor mutation in the mouse ortholog of Mfrp is responsible for photoreceptor deg...

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Bibliographic Details
Published in:Ophthalmic genetics 2005-12, Vol.26 (4), p.157-161
Main Authors: Pauer, Gayle J. T., Xi, Quansheng, Zhang, Kang, Traboulsi, Elias I., Hagstrom, Stephanie A.
Format: Article
Language:English
Subjects:
5' Untranslated Regions - genetics
Case-Control Studies
DNA Mutational Analysis
Female
frizzled
Humans
Introns - genetics
Male
Membrane Proteins - genetics
MFRP
mutation
Mutation, Missense - genetics
Optic Atrophy, Hereditary, Leber - genetics
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Retinal degeneration
Retinal Degeneration - genetics
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Summary:MFRP is a member of the frizzled-related protein family and contains a cysteine-rich domain essential for Wnt binding and signaling. MFRP is highly expressed in the retinal pigment epithelial cells of the eye. A splice donor mutation in the mouse ortholog of Mfrp is responsible for photoreceptor degeneration in the rd6 mouse. For these reasons, we investigated MFRP as a candidate gene for a phenotype associated with mutations. We screened 152 patients with inherited retinal degenerations including retinitis pigmentosa, Leber congenital amaurosis and Stargardt macular dystrophy. We identified five polymorphisms in the 5′ untranslated region, four missense changes, six isocoding variants and four intronic changes. None of the sequence variants were interpreted as pathogenic.
ISSN:1381-6810
1744-5094
DOI:10.1080/13816810500374425