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Gene Review: 

CHED1  -  corneal endothelial dystrophy 1 (autosomal...

Homo sapiens

Synonyms: CHED, CHED2
 
 
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High impact information on CHED1

  • The gene responsible for AD CHED (HGMW-approved symbol CHED1) has been mapped to the pericentromeric region of chromosome 20 [1].
  • CONCLUSION: These results confirm that mutations in the SLC4A11 gene cause autosomal recessive CHED [2].
  • METHODS: Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12 [2].

References

  1. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. Hand, C.K., Harmon, D.L., Kennedy, S.M., FitzSimon, J.S., Collum, L.M., Parfrey, N.A. Genomics (1999) [Pubmed]
  2. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. Jiao, X., Sultana, A., Garg, P., Ramamurthy, B., Vemuganti, G.K., Gangopadhyay, N., Hejtmancik, J.F., Kannabiran, C. J. Med. Genet. (2007) [Pubmed]
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