title: 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 inPDE6AandPDE6Bare responsible for the retinal phenotype in these families.
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
authors.forename: Inayat
authors.initials: I
authors.lastname: Ullah
authors.affiliation: The Wilmer Eye Institute, Johns Hopkins University School of Medicine , Baltimore, MD, USA.
authors.forename: Firoz
authors.initials: F
authors.lastname: Kabir
authors.affiliation: The Wilmer Eye Institute, Johns Hopkins University School of Medicine , Baltimore, MD, USA.
authors.forename: Clare Brooks S
authors.initials: CB
authors.lastname: Gottsch
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
authors.forename: Muhammad Asif
authors.initials: MA
authors.lastname: Naeem
authors.affiliation: Shiley Eye Institute, University of California San Diego , La Jolla, CA, USA.
authors.forename: Aditya A
authors.initials: AA
authors.lastname: Guru
authors.affiliation: Shiley Eye Institute, University of California San Diego , La Jolla, CA, USA.
authors.forename: Radha
authors.initials: R
authors.lastname: Ayyagari
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
authors.forename: Shaheen N
authors.initials: SN
authors.lastname: Khan
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
authors.affiliation: Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
authors.forename: Javed
authors.initials: J
authors.lastname: Akram
authors.affiliation: The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: S Amer
authors.initials: SA
authors.lastname: Riazuddin