Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

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 i...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112436/
https://www.ncbi.nlm.nih.gov/pubmed/27917291
http://dx.doi.org/10.1038/hgv.2016.36
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author 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
author_facet 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
author_sort Ullah, Inayat
collection PubMed
description 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.
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spelling pubmed-51124362016-12-02 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 Hum Genome Var Data Report 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. Nature Publishing Group 2016-11-17 /pmc/articles/PMC5112436/ /pubmed/27917291 http://dx.doi.org/10.1038/hgv.2016.36 Text en Copyright © 2016 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
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
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
title Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
title_full Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
title_fullStr Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
title_full_unstemmed Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
title_short Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
title_sort mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112436/
https://www.ncbi.nlm.nih.gov/pubmed/27917291
http://dx.doi.org/10.1038/hgv.2016.36
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