A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.
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.
Valverde
D
D
Unitat de Genètica Molecular, Hospital de Sant Pau, Barcelona, Spain.
Solans
T
T
Grinberg
D
D
Balcells
S
S
Vilageliu
L
L
Bayés
M
M
Chivelet
P
P
Besmond
C
C
Goossens
M
M
González-Duarte
R
R
Baiget
M
M
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*
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