References
- Gunda P, Manne M, Adeel SS, Kondareddy RKR, Tirunilai P.Detection of c.139G>A (D47N) mutation in GJA8 gene in an extended family with inheritance of autosomal dominant zonular cataract without pulverulent opacities by exome sequencing. J Genet. 2018;97(4):879–85. doi:https://doi.org/10.1007/s12041-018-0971-3.
- Brennan LA, Kantorow WL, Chauss D, McGreal R, He S, Mattucci L, Wei J, Riazuddin SA, Cvekl A, Hejtmancik JF, et al. Spatial expression patterns of autophagy genes in the eye lens and induction of autophagy in lens cells. Mol Vis. 2012;18:1773–86.
- Iqbal H, Khan SY, Zhou L, Irum B, Ali M, Ahmed MR, Shahzad M, Ali MH, Naeem MA, Riazuddin S, et al. Mutations in FYCO1 identified in families with congenital cataracts. Mol Vis. 2020;26:334–44.
- Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, et al. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011;88(6):827–38. doi:https://doi.org/10.1016/j.ajhg.2011.05.008.
- Wirth MG, Russell-Eggitt IM, Craig JE, Elder JE, Mackey DA.Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol. 2002;86(7):782–86. doi:https://doi.org/10.1136/bjo.86.7.782.
- Gillespie RL, O’Sullivan J, Ashworth J, Bhaskar S, Williams S, Biswas S, Kehdi E, Ramsden SC, Clayton-Smith J, Black GC, et al. Personalized diagnosis and management of congenital cataract by next-generation sequencing. Ophthalmology. 2014;121(11):2124–2137.e1-2. doi:https://doi.org/10.1016/j.ophtha.2014.06.006.
- Kiss H, Yang Y, Kiss C, Andersson K, Klein G, Imreh S, Dumanski JP. 2002. The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3. Eur J Hum Genet. 10(1):52–61. doi:https://doi.org/10.1038/sj.ejhg.5200758
- Callebaut I, de Gunzburg J, Goud B, Mornon JP. 2001. RUN domains: a new family of domains involved in Ras-like GTPase signaling. Trends Biochem Sci. 26(2):79–83. doi:https://doi.org/10.1016/s0968-0004(00)01730-8
- Hayakawa A, Hayes SJ, Lawe DC, Sudharshan E, Tuft R, Fogarty K, Lambright D, Corvera S. 2004. Structural basis for endosomal targeting by FYVE domains. J Biol Chem. 279(7):5958–66. doi:https://doi.org/10.1074/jbc.M310503200
- Tanida I, Ueno T, Kominami E. LC3 and autophagy. Methods Mol Biol. 2008;445:77–88. doi:https://doi.org/10.1007/978-1-59745-157-4_4.
- Chen J, Wang Q, Cabrera PE, Zhong Z, Sun W, Jiao X, Chen Y, Govindarajan G, Naeem MA, Khan SN, et al. Molecular genetic analysis of Pakistani families with autosomal recessive congenital cataracts by homozygosity screening. Invest Ophthalmol Vis Sci. 2017;58(4):2207–17. doi:https://doi.org/10.1167/iovs.17-21469.
- Abouzeid H, Helmy G, Sada ME, Sherif M, Yacoub MH, Boisset G, Favez T, Schorderet DF.FYCO1 mutation hotspot in congenital cataract. Invest Ophthalmol Vis Sci. 2012;53(14):1723–1723.
- Khan AO, Aldahmesh MA, Alkuraya FS. Phenotypes of recessive pediatric cataract in a cohort of children with identified homozygous gene mutations (An American ophthalmological society thesis). Trans Am Ophthalmol Soc. 2015 [accessed 2020 September 11];113. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634221/.