CRYGS gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Protein: crystallin gamma S
  • Expressed in the lens
  • Lower level of expression in the brain
  • Highly organized, compact structures that contribute to the refractive index of the lens
  • Interacts with other crystallins to maintain lens transparency
Clinical phenotype
(OMIM phenotype no.)
  • Cataract 20, multiple types (#116100)
Inheritance
  • 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
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (cataract)
  • Whole exome sequencing
  • Whole genome sequencing
ManagementOcular
Therapies under research
  • None at present
Further information

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References

  1.  Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF. Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis. 2008;14:1157‐1170
  2.  Sun H, Ma Z, Li Y, et al. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. J Med Genet. 2005;42(9):706‐710
  3.  Vanita V, Singh JR, Singh D, Varon R, Sperling K. Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. Mol Vis. 2009;15:476‐481
  4.  Zarina S, Abbasi A, Zaidi ZH. Primary structure of beta s-crystallin from human lens. Biochem J. 1992;287 ( Pt 2)(Pt 2):375‐381

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Updated on November 30, 2020
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