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

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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.

Original languageEnglish (US)
Article number16036
JournalHuman Genome Variation
Volume3
DOIs
StatePublished - Nov 17 2016

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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    Ullah, I., Kabir, F., Gottsch, C. B. S., Naeem, M. A., Guru, A. A., Ayyagari, R., Khan, S. N., Riazuddin, S., Akram, J., & Riazuddin, S. A. (2016). Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. Human Genome Variation, 3, [16036]. https://doi.org/10.1038/hgv.2016.36