Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.

ABSTRACT: To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and β subunits of phosphodiesterase 6 and identified mutations that were absent in control chromosomes. Our data suggest that mutations in PDE6A and PDE6B are responsible for the retinal phenotype in these families.

SUBMITTER: Ullah I 

PROVIDER: S-EPMC5112436 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature