Abstract
We report the molecular analysis of the beta subunit of the rod phosphodiesterase (PDEB) gene in a consanguineous autosomal recessive retinitis pigmentosa family that shows homozygosity for polymorphisms in the genomic region comprising this gene, and positive linkage between a PDEB marker and the disease. The two affected sisters are homozygous for a T to G transversion in codon 699 of the PDEB gene, leading to the substitution of a leucine by an arginine residue. This change, enclosed in the catalytic domain of the PDEB, could result in a modification of the protein structure preventing the physiological hydrolysis of cGMP.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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3',5'-Cyclic-GMP Phosphodiesterases / chemistry
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3',5'-Cyclic-GMP Phosphodiesterases / genetics*
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Amino Acid Sequence
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Arginine
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Base Sequence
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Codon
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Consanguinity
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Cyclic Nucleotide Phosphodiesterases, Type 6
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Female
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Humans
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Leucine
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Male
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Molecular Sequence Data
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Pedigree
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Phosphoric Diester Hydrolases*
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Point Mutation*
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Polymorphism, Single-Stranded Conformational
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Retinal Rod Photoreceptor Cells / enzymology*
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Retinitis Pigmentosa / enzymology
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Retinitis Pigmentosa / genetics*
Substances
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Codon
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Arginine
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Phosphoric Diester Hydrolases
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3',5'-Cyclic-GMP Phosphodiesterases
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Cyclic Nucleotide Phosphodiesterases, Type 6
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PDE6B protein, human
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Leucine