Advanced search
Publication Cover
Ophthalmic Genetics Volume 40, 2019 - Issue 4
Submit an article Journal homepage
155
Views
0
CrossRef citations to date
0
Altmetric
Case Reports

A new novel nonsense mutation in AIPL1 in a LCA4 family

Ling WanDepartment of Ophthalmology, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, China
,
Li XiangAffiliated Sichuan Ba-Yi Rehabilitation Center of Chengdu University of TCM (Sichuan Provincial Rehabilitation Hospital), Chengdu, China
,
Haixin WangDepartment of Ophthalmology, The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China
,
Yi ShiDepartment of Ophthalmology, The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China
,
Dan JiangDepartment of Ophthalmology, The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China
,
Fang HaoDepartment of Ophthalmology, The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China
&
Lulin HuangDepartment of Ophthalmology, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, China;Department of Ophthalmology, The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaCorrespondence[email protected]
 show all
Pages 380-384 | Received 07 Mar 2019, Accepted 08 Sep 2019, Published online: 02 Oct 2019

References

  • Den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Progress in Retinal and Eye Research. 2008;27:391–419. doi:10.1016/j.preteyeres.2008.05.003.
  • Sacristan-Reviriego A, Bellingham J, Prodromou C, Boehm AN, Aichem A, Kumaran N, Bainbridge J, Michaelides M, van der Spuy J. The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6. Human Molecular Genetics. 2018; 27(7):1309–1309
  • Koenekoop RK. An overview of Leber congenital amaurosis: a model to understand human retinal development. Survey of Ophthalmology. 2004;49:379–98. doi:10.1016/j.survophthal.2004.04.003.
  • Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nature Genetics. 2000;24:79–83. doi:10.1038/71732.
  • Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, et al. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Molecular Genetics and Metabolism. 2000;70:142–50. doi:10.1006/mgme.2000.3001.
  • Muthukumaran S, Umashankar V, Valliappan MR. Structural studies on AIPL1 and its functional interactions with NUB1 to identify key interacting residues in LCA4. Journal of Ocular Biology, Diseases, and Informatics. 2012;5:54–60. doi:10.1007/s12177-013-9102-9.
  • Sacristan-Reviriego A, van der Spuy J. The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. Advances in Experimental Medicine and Biology. 2018;1074:381–86. doi:10.1007/978-3-319-75402-4_47.
  • Hameed A, Khaliq S, Ismail M, Anwar K, Ebenezer ND, Jordan T, Mehdi SQ, Payne AM, Bhattacharya SS. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13. Investigative Ophthalmology & Visual Science. 2000;41:629–33.
  • Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, et al. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Archives of Ophthalmology. 2004;122:1029–37. doi:10.1001/archopht.122.7.1029.
  • Yadav RP, Artemyev NO. AIPL1: A specialized chaperone for the phototransduction effector. Cellular Signalling. 2017;40:183–89. doi:10.1016/j.cellsig.2017.09.014.
  • Makino CL, Wen XH, Michaud N, Peshenko IV, Pawlyk B, Brush RS, Soloviev M, Liu X, Woodruff ML, Calvert PD, et al. Effects of low AIPL1 expression on phototransduction in rods. Investigative Ophthalmology & Visual Science. 2006;47:2185–94. doi:10.1167/iovs.05-1341.
  • van der Spuy J, Chapple JP, Clark BJ, Luthert PJ, Sethi CS, Cheetham ME. The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. Human Molecular Genetics. 2002;11:823–31. doi:10.1093/hmg/11.7.823.
  • Singh RK, Kolandaivelu S, Ramamurthy V. Early alteration of retinal neurons in Aipl1-/- animals. Investigative Ophthalmology & Visual Science. 2014;55:3081–92. doi:10.1167/iovs.13-13728.

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.