title: A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.
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.
authors.affiliation: Unitat de Genètica Molecular, Hospital de Sant Pau, Barcelona, Spain.
authors.forename: D
authors.initials: D
authors.lastname: Valverde
authors.forename: T
authors.initials: T
authors.lastname: Solans
authors.forename: D
authors.initials: D
authors.lastname: Grinberg
authors.forename: S
authors.initials: S
authors.lastname: Balcells
authors.forename: L
authors.initials: L
authors.lastname: Vilageliu
authors.forename: M
authors.initials: M
authors.lastname: Bayés
authors.forename: P
authors.initials: P
authors.lastname: Chivelet
authors.forename: C
authors.initials: C
authors.lastname: Besmond
authors.forename: M
authors.initials: M
authors.lastname: Goossens
authors.forename: R
authors.initials: R
authors.lastname: González-Duarte
authors.forename: M
authors.initials: M
authors.lastname: Baiget
mesh_terms: D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000737:chemistry / Q000235:genetics*; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D003062:Codon; D003241:Consanguinity; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D005260:Female; D006801:Humans; D007930:Leucine; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010727:Phosphoric Diester Hydrolases; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017948:Retinal Rod Photoreceptor Cells / Q000201:enzymology*; D012174:Retinitis Pigmentosa / Q000201:enzymology / Q000235:genetics*
chemical_list: D003062:Codon; D001120:Arginine; D010727:Phosphoric Diester Hydrolases; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human; D007930:Leucine