title: Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients.
abstract: A family affected with autosomal dominant retinitis pigmentosa (RP) is presented. Two clinically affected patients (mother and daughter) were heterozygous for the same novel missense mutation (Val137Met) of the rhodopsin gene (RHO). Both heterozygous and homozygous cases were observed among their few symptomatic relatives. Wide clinical variation was exhibited among the individuals with mutations in this family. None of the controls showed this change in RHO, nor has it been previously reported in other RP families. No other RHO mutation was observed. Additional genetic or environmental factors could play a role in modulating the penetrance and clinical expression of this RHO mutation.
authors.affiliation: Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: M
authors.initials: M
authors.lastname: Robledo
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: J
authors.initials: J
authors.lastname: Benitez
authors.forename: F
authors.initials: F
authors.lastname: Martín-Osés
authors.forename: T
authors.initials: T
authors.lastname: del Rio
authors.forename: B
authors.initials: B
authors.lastname: García-Sandoval
mesh_terms: D001483:Base Sequence; D002386:Cataract; D017931:DNA Primers; D005091:Exons; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D017421:Sequence Analysis; D014792:Visual Acuity
chemical_list: D017931:DNA Primers; D012243:Rhodopsin