OMIA 002163-9544 : Cone dystrophy 4, PDE6C-related in Macaca mulatta

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613093

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Molecular basis: Moshiri et al. (2019) "identified 4 related [non-human primates; rhesus macaques] NHPs at the California National Primate Research Center with visual impairment and findings from clinical ophthalmic examination, advanced retinal imaging, and electrophysiology consistent with achromatopsia. Genetic sequencing [of 43 comparative functional candidate genes] confirmed a homozygous R565Q missense mutation in the catalytic domain of PDE6C, a cone-specific phototransduction enzyme associated with achromatopsia in humans. Biochemical studies demonstrate that the mutant mRNA is translated into a stable protein that displays normal cellular localization but is unable to hydrolyze cyclic GMP (cGMP)."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PDE6C phosphodiesterase 6C Macaca mulatta 9 NC_027901.1 (88829177..88879723) PDE6C Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Cone dystrophy 4, PDE6C-related PDE6C missense Mmul_8.0.1 9 p.R565Q 2019 30667376

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Moshiri, A., Chen, R., Kim, S., Harris, R.A., Li, Y., Raveendran, M., Davis, S., Liang, Q., Pomerantz, O., Wang, J., Garzel, L., Cameron, A., Yiu, G., Stout, J.T., Huang, Y., Murphy, C.J., Roberts, J., Gopalakrishna, K.N., Boyd, K., Artemyev, N.O., Rogers, J., Thomasy, S.M. :
A nonhuman primate model of inherited retinal disease. J Clin Invest 129:863-874, 2019. Pubmed reference: 30667376. DOI: 10.1172/JCI123980.
Uyhazi, K.E., Bennett, J. :
Blinded by the light: a nonhuman primate model of achromatopsia. J Clin Invest 129:513-515, 2019. Pubmed reference: 30667378. DOI: 10.1172/JCI126205.

Edit History


  • Created by Frank Nicholas on 05 Feb 2019
  • Changed by Frank Nicholas on 05 Feb 2019