Novel pathogenic CERKL variant in Iranian familial with inherited retinal dystrophies: genotype–phenotype correlation

Author:

Fu Shangyi,Fu Jiewen,Mobasher-Jannat Abdolkarim,Jadidi Khosrow,Li Yumei,Chen Rui,Imani Saber,Cheng JingliangORCID

Funder

National Natural Science Foundation of China

Innovative Research Group Project of the National Natural Science Foundation of China

Key Laboratory of Medical Electrophysiology of Ministry of Education

Publisher

Springer Science and Business Media LLC

Subject

Agricultural and Biological Sciences (miscellaneous),Environmental Science (miscellaneous),Biotechnology

Reference31 articles.

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2. Ali M, Ramprasad VL, Soumittra N, Mohamed MD, Jafri H, Rashid Y, Danciger M, McKibbin M, Kumaramanickavel G, Inglehearn CF (2008) A missense mutation in the nuclear localization signal sequence of CERKL (p. R106S) causes autosomal recessive retinal degeneration. Mol Vis 14:1960–1964

3. Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE, Ukirdc AC, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R (2016) Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet 99(6):1305–1315. https://doi.org/10.1016/j.ajhg.2016.10.008

4. Avela K, Sankila EM, Seitsonen S, Kuuluvainen L, Barton S, Gillies S, Aittomaki K (2018) A founder mutation in CERKL is a major cause of retinal dystrophy in Finland. Acta Ophthalmol 96(2):183–191. https://doi.org/10.1111/aos.13551

5. Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, Wilke R, Tapias I, Cantalapiedra D, Aguirre-Lamban J, Gimenez A, Trujillo-Tiebas MJ, Ayuso C (2008) CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa. Invest Ophthalmol vis Sci 49(6):2709–2713. https://doi.org/10.1167/iovs.07-0865

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