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cataracts

Thursday 16 October 2003

Definition: Opacity of the entire lens or its parts.

Types (Examples)

- autosomal dominant cataract

Classification of mutated genes

- transcription factor mutations

  • PAX6 mutations
  • PITX3 mutations
  • EYA1 mutations
  • MAF mutations
  • CHX10 mutations

- miscellaneous

  • MIP mutations

- gap junction proteins

  • GJA1
  • GJA3
  • GJA8

- structural proteins

  • CRYBB1 in autosomal dominant cataract
  • CRYAA
  • CRYAB
  • CRYBA1
  • CRYBB1
  • CRYBB2
  • CRYGA-F
  • mutations in the LIM2 gene (#11917274#) in dominant congenital posterior polar cataract

- chromatin-modifying protein/charged multivesicular body protein (CHMPs)

  • CHMP4B (autosomal dominant cataract)

References

- Biswas S, Harris F, Dennison S, Singh J, Phoenix DA. Calpains: targets of cataract prevention? Trends Mol Med. 2004 Feb;10(2):78-84. PMID: #15102361#

- Francis PJ, Berry V, Moore AT, Bhattacharya S. Lens biology: development and human cataractogenesis. Trends Genet. 1999 May;15(5):191-6. PMID: #10322486#