title: Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
abstract: Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP, more than 1000 mutations have been reported in these genes, clinical findings are highly variable, and there is considerable overlap with other types of inherited disease. Currently, it is possible to detect disease-causing mutations in 50%-75% of adRP families in select populations. Genetic diagnosis of adRP has advantages over other forms of RP because segregation of disease in families is a useful tool for identifying and confirming potentially pathogenic variants, but there are disadvantages too. In addition to identifying the cause of disease in the remaining 25% of adRP families, a central challenge is reconciling clinical diagnosis, family history, and molecular findings in patients and families.
authors.affiliation: Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas 77030.
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Daiger
authors.affiliation: Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas 77030.
authors.forename: Sara J
authors.initials: SJ
authors.lastname: Bowne
authors.affiliation: Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas 77030.
authors.forename: Lori S
authors.initials: LS
authors.lastname: Sullivan
mesh_terms: D005799:Genes, Dominant / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D025202:Molecular Diagnostic Techniques; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*