CRYGC gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: crystallin gamma C
  • Major structural component of the lens
  • Highly organized, compact structures that contribute to the refractive index of the lens
  • Interacts with other crystallins to maintain lens structure and transparency
Clinical phenotype
(OMIM phenotype no.)
  • Cataract 2, multiple types (#604307)
  • Autosomal dominant
Ocular features
Systemic features
  • No extraocular features have been reported
Key investigations
  • B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities
  • Electrophysiology
  • TORCH screen
  • Assessment with a paediatrician if suspicious of systemic involvement
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (cataract)
  • Whole exome sequencing
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

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Additional information

Heterozygous p.Trp157Ter mutation is associated with microcornea. [6,7]

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  1.  Brakenhoff RH, Henskens HA, van Rossum MW, Lubsen NH, Schoenmakers JG. Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum Mol Genet. 1994;3(2):279‐283
  2.  Fu L, Liang JJ. Alteration of protein-protein interactions of congenital cataract crystallin mutants. Invest Ophthalmol Vis Sci. 2003;44(3):1155‐1159
  3.  Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI. Autosomal dominant congenital cataract. Interocular phenotypic variability. Ophthalmology. 1994;101(5):866‐871
  4.  Ren Z, Li A, Shastry BS, et al. A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet. 2000;106(5):531‐537
  5.  Gonzalez-Huerta LM, Messina-Baas OM, Cuevas-Covarrubias SA. A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity. Mol Vis. 2007;13:1333‐1338
  6.  Guo Y, Su D, Li Q, et al. A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. Mol Vis. 2012;18:1874‐1880
  7.  Zhang L, Fu S, Ou Y, Zhao T, Su Y, Liu P. A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. Mol Vis. 2009;15:276‐282
  8.  Héon E, Priston M, Schorderet DF, et al. The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet. 1999;65(5):1261‐1267

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Updated on November 30, 2020
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