Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

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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.

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Ullah, I., Kabir, F., Gottsch, C. B. S., Naeem, M. A., Guru, A. A., Ayyagari, R., … Riazuddin, S. A. (2016). Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. Human Genome Variation, 3. https://doi.org/10.1038/hgv.2016.36

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