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

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English (US)
Article number	16036
Journal	Human Genome Variation
Volume	3
DOIs	https://doi.org/10.1038/hgv.2016.36
State	Published - Nov 17 2016

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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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 in PDE6A and PDE6B are responsible for the retinal phenotype in these families.",

author = "Inayat Ullah and Firoz Kabir and Gottsch, {Clare Brooks S.} and Naeem, {Muhammad Asif} and Guru, {Aditya A.} and Radha Ayyagari and Khan, {Shaheen N.} and Sheikh Riazuddin and Javed Akram and Riazuddin, {S. Amer}",

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AU - Ullah, Inayat

AU - Kabir, Firoz

AU - Gottsch, Clare Brooks S.

AU - Naeem, Muhammad Asif

AU - Guru, Aditya A.

AU - Ayyagari, Radha

AU - Khan, Shaheen N.

AU - Riazuddin, Sheikh

AU - Akram, Javed

AU - Riazuddin, S. Amer

PY - 2016/11/17

Y1 - 2016/11/17

N2 - 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.

AB - 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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Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

Abstract

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