Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

Inayat Ullah; Firoz Kabir; Clare Brooks S Gottsch; Muhammad Asif Naeem; Aditya A Guru; Radha Ayyagari; Shaheen N Khan; Sheikh Riazuddin; Javed Akram; S Amer Riazuddin

doi:10.1038/hgv.2016.36

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

Hum Genome Var. 2016 Nov 17:3:16036. doi: 10.1038/hgv.2016.36. eCollection 2016.

Authors

Affiliations

¹ National Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
² The Wilmer Eye Institute, Johns Hopkins University School of Medicine , Baltimore, MD, USA.
³ Shiley Eye Institute, University of California San Diego , La Jolla, CA, USA.
⁴ 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.
⁵ Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
⁶ 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.

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.

Grants and funding

R01 EY021237/EY/NEI NIH HHS/United States