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

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

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

Afiliação

Ullah I; National Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
Kabir F; The Wilmer Eye Institute, Johns Hopkins University School of Medicine , Baltimore, MD, USA.
Gottsch CB; The Wilmer Eye Institute, Johns Hopkins University School of Medicine , Baltimore, MD, USA.
Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
Guru AA; Shiley Eye Institute, University of California San Diego , La Jolla, CA, USA.
Ayyagari R; Shiley Eye Institute, University of California San Diego , La Jolla, CA, USA.
Khan SN; National Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
Riazuddin S; 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.
Akram J; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Riazuddin SA; 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.

Hum Genome Var ; 3: 16036, 2016.

Article em En | MEDLINE | ID: mdl-27917291

ABSTRACT

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 ß 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.

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Paquistão

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