Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa

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 1...

Full description

Saved in:
Bibliographic Details
Published in:Cold Spring Harbor perspectives in medicine 2015-10, Vol.5 (10), p.a017129
Main Authors: Daiger, Stephen P, Bowne, Sara J, Sullivan, Lori S
Format: Article
Language:English
Subjects:
Genes, Dominant - genetics
Genes, Recessive - genetics
Genetic Linkage - genetics
Humans
Molecular Diagnostic Techniques
Mutation - genetics
Pedigree
Retinitis Pigmentosa - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2157-1422
2472-5412
DOI:10.1101/cshperspect.a017129