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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 ? and ? 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.

SUBMITTER: Ullah I 

PROVIDER: S-EPMC5112436 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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

Ullah Inayat I   Kabir Firoz F   Gottsch Clare Brooks S CB   Naeem Muhammad Asif MA   Guru Aditya A AA   Ayyagari Radha R   Khan Shaheen N SN   Riazuddin Sheikh S   Akram Javed J   Riazuddin S Amer SA  

Human genome variation 20161117


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 <i>PDE6A</i> and <i>PDE6B</i> are responsible for the retinal phenotype in these families. ...[more]

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