Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.

ABSTRACT:

Background

Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency of unaffected carriers of mutations. In this study we estimate the proportion of these individuals within the general population, via the analyses of data from whole-genome sequencing.

Methodology/principal findings

We screened complete and high-quality genome sequences from 46 control individuals from various world populations for HRD mutations, using bioinformatic tools developed in-house. All mutations detecte

SUBMITTER: Nishiguchi KM 

PROVIDER: S-EPMC3407128 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature