CRYBA1 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Protein: crystallin beta A1
  • Lens-specific protein with both structural and functional components
  • Highly organized, compact structures that contribute to the refractive index of the lens
  • Interacts with other crystallins to maintain lens transparency
  • Functions as a molecular chaperone in its oxidised form
Clinical phenotype
(OMIM phenotype no.)
  • Cataract 10, multiple types (#600881)
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
  • MRI brain and orbit
  • Assessment with a paediatrician if suspicious of systemic involvement
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.  Carper D. Deficiency of functional messenger RNA for a developmentally regulated beta-crystallin polypeptide in a hereditary cataract. Science. 1982;217(4558):463‐464
  2.  Kannabiran C, Rogan PK, Olmos L, et al. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis. 1998;4:21
  3.  Padma T, Ayyagari R, Murty JS, et al. Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am J Hum Genet. 1995;57(4):840‐845
  4.  Reddy MA, Bateman OA, Chakarova C, et al. Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. Hum Mol Genet. 2004;13(9):945‐953

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Updated on November 30, 2020
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