Advanced search
Publication Cover
Ophthalmic Genetics Volume 42, 2021 - Issue 3
Submit an article Journal homepage
176
Views
3
CrossRef citations to date
0
Altmetric
Case Reports

A homozygous POC1B variant causes recessive cone-rod dystrophy

Ann-Marie C. Petursona Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, CanadaView further author information
,
Nicole C. L. Noelb Department of Medical Genetics, University of Alberta, Edmonton, Alberta, CanadaView further author information
&
Ian M. MacDonalda Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada;b Department of Medical Genetics, University of Alberta, Edmonton, Alberta, CanadaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-7472-8385View further author information
ORCID Icon
Pages 349-353 | Received 28 Dec 2020, Accepted 15 Feb 2021, Published online: 04 Mar 2021

References

  • Roosing S, Lamers IJC, De VE, Van Den Born LI, Lambertus S, Arts HH, Peters TA, Hoyng CB, Kremer H, Hetterschijt L, et al. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. Am J Hum Genet. 2014;95(2):131–42. doi:10.1016/j.ajhg.2014.06.012.
  • Pearson CG, Osborn DPS, Giddings TH, Beales PL, Winey M.Basal body stability and ciliogenesis requires the conserved component Poc1. J Cell Biol. 2009;187(6):905–20. doi:10.1083/jcb.200908019.
  • Keller LC, Geimer S, Romijn E, Yates III J, Zamora I, Marshall WF. Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control. Mol Biol Cell. 2009;20:1150–66. doi:10.1091/mbc.e08-06-0619.
  • Venoux M, Tait X, Hames RS, Straatman KR, Woodland HR, Fry AM.Poc1A and Poc1B act together in human cells to ensure centriole integrity. J Cell Sci. 2013;126(1):163–75. doi:10.1242/jcs.111203.
  • Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, et al. Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat. 2014;35(10):1153–62. doi:10.1002/humu.22618.
  • Durlu YK, Ç K, Tolun A.Novel recessive cone-rod dystrophy caused by POC1B mutation. JAMA Ophthalmol. 2014;132(10):1185–91. doi:10.1001/jamaophthalmol.2014.1658.
  • Kominami A, Ueno S, Kominami T, Nakanishi A, Ito Y, Fujinami K, Tsunoda K, Hayashi T, Kikuchi S, Kameya S, et al. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. Ophthalmic Genet [Internet]. 2018;39(2):255–62. doi:10.1080/13816810.2017.1408846.
  • Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, et al. Phenotypical characteristics of POC1B-associated retinopathy in Japanese cohort: cone dystrophy with normal funduscopic appearance. Investig Ophthalmol Vis Sci. 2019;60(10):3432–446. doi:10.1167/iovs.19-26650.
  • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods [Internet]. 2010;7(4):248–49. doi:10.1038/nmeth0410-248.
  • Sim N-L, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC.SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 2012;40(W1):452–57. doi:10.1093/nar/gks539.
  • Schwarz JM, Cooper DN, Schuelke M, Seelow D.MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361–62. doi:10.1038/nmeth.2890.
  • Davis EE, Katsanis N. The ciliopathies: A transitional model into systems biology of human genetic disease. Curr Opin Genet Dev [Internet]. 2012;22(3):290–303. doi:10.1016/j.gde.2012.04.006.
  • Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, et al. A structural variation reference for medical and population genetics. Nature. 2020;581(7809):444–51. doi:10.1038/s41586-020-2287-8.
  • Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43. doi:10.1038/s41586-020-2308-7.
  • Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari M, Megason S, et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012;91(2):330–36. doi:10.1016/j.ajhg.2012.05.025.
  • Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, Qiaoli L, Cohen-Katsenelson K, Spiegel R, Nousbeck J, Israeli S, et al. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet [Internet]. 2012;91(2):337–42. doi:10.1016/j.ajhg.2012.06.003.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.