Molecular characteristics of inherited congenital cataracts

Eur J Med Genet. Nov-Dec 2010;53(6):347-57. doi: 10.1016/j.ejmg.2010.07.001. Epub 2010 Sep 17.

Abstract

Congenital cataracts are a major cause of induced blindness in children, and inherited cataracts are the major cause of congenital cataracts. Inherited congenital cataracts have been associated with mutations in specific genes, including those of crystallins, gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. Locating and identifying the genes and mutations involved in cataractogenesis are essential to gaining an understanding of the molecular defects and pathophysiologic characteristics of inherited congenital cataracts. In this review, we summarize the current research in this field.

Publication types

  • Review

MeSH terms

  • Animals
  • Aquaporins / genetics
  • Aquaporins / metabolism
  • Cataract / congenital*
  • Cataract / genetics*
  • Child
  • Connexins / genetics*
  • Connexins / metabolism
  • Crystallins / genetics*
  • Cytoskeleton / genetics*
  • Cytoskeleton / metabolism
  • Eye Proteins / genetics
  • Eye Proteins / metabolism
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • Intermediate Filament Proteins / genetics
  • Intermediate Filament Proteins / metabolism
  • Lens, Crystalline / physiology
  • Mice
  • Mice, Knockout
  • Mutation
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics
  • Paired Box Transcription Factors / metabolism
  • Repressor Proteins / genetics
  • Repressor Proteins / metabolism
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Vimentin / genetics
  • Vimentin / metabolism

Substances

  • Aquaporins
  • Connexins
  • Crystallins
  • Eye Proteins
  • Homeodomain Proteins
  • Intermediate Filament Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Pax6 protein, mouse
  • Repressor Proteins
  • Transcription Factors
  • Vimentin
  • aquaporin 0
  • homeobox protein PITX3
  • phakinin