Citation:Yi J,Yun J,Li ZK,Xu CT,Pan BR.Epidemiology and molecular genetics of congenital cataracts.Int J Ophthalmol 2011;4(4):422-432,doi:10.3980/j.issn.2222-3959.2011.04.20
Epidemiology and molecular genetics of congenital cataracts
  
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DOI:10.3980/j.issn.2222-3959.2011.04.20
Key Words:congenital cataract  crystallin protein gene  gap junction channel protein gene  membrane protein gene  cytoskeleton protein  transcription factor genes  ferritin light chain gene  growth factor gene
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Jun Yi Department of Vascular Endocrine Surgery, Xijing Hospital, Fourth Military Medical University, Xi’an , Shaanxi Province, China
Jun Yun Department of Vascular Endocrine Surgery, Xijing Hospital, Fourth Military Medical University, Xi’an , Shaanxi Province, China
Zhi-Kui Li Department of Respiratory, Xijing Hospital, Fourth Military Medical University, Xi’an , Shaanxi Province, China
Chang-Tai Xu Department of Anatomy and Editorial Office of Chinese Journal of Neuroanatomy, Fourth Military Medical University, Xi’an , Shaanxi Province, China
Bo-Rong Pan Outpatient Department of Oncology, Institute of Tumour, Fourth Military Medical University, Xi’an , Shaanxi Province, China
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Abstract:
      · Congenital cataract is a crystallin severe blinding disease and genetic factors in disease development are important. Crystallin growth is under a combination of genes and their products in time and space to complete the coordination role of the guidance. Congenital cataract-related genes, included crystallin protein gene (CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS), gap junction channel protein gene (GJA1, GJA3, GJA8), membrane protein gene (GJA3, GJA8, MIP, LIM2), cytoskeletal protein gene (BF-SP2), transcription factor genes (HSF4, MAF, PITX3, PAX6), ferritin light chain gene (FTL), fibroblast growth factor (FGF) and so on. Currently, there are about 39 genetic loci isolated to which primary cataracts have been mapped, although the number is constantly increasing and depends to some extent on definition. We summarized the recent advances on epidemiology and genetic locations of congenital cataract in this review.

    

PMC FullText Html:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340856/
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