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Ophthalmic Genetics Volume 37, 2016 - Issue 1
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Research Reports

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration

Jacque L. DuncanDepartment of Ophthalmology, University of California, San Francisco, CA, USA,
,
Pooja BiswasShiley Eye Center, University of California, San Diego, La Jolla, CA, USA,
,
Igor KozakShiley Eye Center, University of California, San Diego, La Jolla, CA, USA,
,
Mili NavaniShiley Eye Center, University of California, San Diego, La Jolla, CA, USA,
,
Reema SyedDepartment of Ophthalmology, University of California, San Francisco, CA, USA,
,
Shiri SoudryDepartment of Ophthalmology, University of California, San Francisco, CA, USA,
,
Moreno MenghiniDepartment of Ophthalmology, University of California, San Francisco, CA, USA,
,
Rafael C. CarusoNational Eye Institute, NIH, Bethesda, MD, USA, ;Princeton Neuroscience Institute, Princeton University, Princeton, NJ, USA,
,
Brett G. JeffreyNational Eye Institute, NIH, Bethesda, MD, USA,
,
John R. HeckenlivelyDepartment of Ophthalmology, University of Michigan, Ann Arbor, MI, USA,
,
G. Bhanuprakash ReddyNational Institute of Nutrition, Indian Council of Medical Research, Hyderabad, India,
,
Pauline LeeShiley Eye Center, University of California, San Diego, La Jolla, CA, USA, ;Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA, and
,
Austin RoordaSchool of Optometry and Vision Science Graduate Group, University of California, Berkeley, CA, USA
&
Radha AyyagariShiley Eye Center, University of California, San Diego, La Jolla, CA, USA, Correspondence[email protected]
 show all
Pages 44-52 | Received 17 Mar 2014, Accepted 26 May 2014, Published online: 09 Jul 2014

References

  • Cukras C, Gaasterland T, Lee P, et al. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. PLoS One 2012;7:e50205
  • Tucker BA, Scheetz TE, Mullins RF, et al. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci USA 2011;108:E569–E576
  • Gu S, Kumaramanickavel G, Srikumari CR, et al. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. J Med Genet 1999;36:705–707
  • Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, et al. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am J Hum Genet 2010;87:382–391
  • Langmann T, Di Gioia SA, Rau I, et al. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Am J Hum Genet 2010;87:376–381
  • Zobor D, Balousha G, Baumann B, Wissinger B. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family. Mol Vis 2014;20:178–182
  • Kumar A, Shetty J, Kumar B, Blanton SH. Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family. Mol Vis 2004;10:399–402
  • Marahnao B, Biswas P, Duncan JL, et al. exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels. Genomics 2014;103:169--176
  • Duncan JL, Talcott KE, Ratnam K, et al. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene. Invest Ophthalmol Vis Sci 2011;52:1557–1566
  • Marmor MF, Fulton AB, Holder GE, et al. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 2009;118:69–77
  • Duncan JL, Zhang Y, Gandhi J, et al. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci 2007;48:3283–3291
  • Roorda A, Zhang Y, Duncan JL. High-resolution in vivo imaging of the RPE mosaic in eyes with retinal disease. Invest Ophthalmol Vis Sci 2007;48:2297–2303
  • Zach F, Grassmann F, Langmann T, et al. The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. Hum Mol Genet 2012;21:4573–4586
  • Di Gioia SA, Letteboer SJ, Kostic C, et al. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Hum Mol Genet 2012;21:5174–5184
  • Talcott KE, Ratnam K, Sundquist SM, et al. Longitudinal study of cone photoreceptors during retinal degeneration and in response to ciliary neurotrophic factor treatment. Invest Ophthalmol Vis Sci 2011;52:2219–2226
  • Duncan JL, Roorda A, Navani M, et al. Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration. Arch Ophthalmol 2012;130:1301--1308

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