CRYBB3 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Protein: crystallin beta B3
  • Lens-specific protein with structural and functional components
  • Interact with other beta crystallins and lens proteins to maintain lens transparency
  • Also involved in lens development
Clinical phenotype
(OMIM phenotype no.)
  • Cataract 22, multiple types (#609741)
Inheritance
  • Autosomal recessive
  • Autosomal dominant
Ocular features
  • Congenital cataracts (cortical, nuclear, anterior or posterior polar)
  • Glaucoma reported in two patients with heterozygous p.Val194Glu mutation
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.  Aarts HJ, Den Dunnen JT, Lubsen NH, Schoenmakers JG. Linkage between the beta B2 and beta B3 crystallin genes in man and rat: a remnant of an ancient beta-crystallin gene cluster. Gene. 1987;59(1):127‐135
  2.  Lampi KJ, Ma Z, Shih M, et al. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. J Biol Chem. 1997;272(4):2268‐2275
  3.  Qi Y, Jia H, Huang S, et al. A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Hum Genet. 2004;114(2):192‐197
  4.  Riazuddin SA, Yasmeen A, Yao W, et al. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci. 2005;46(6):2100‐2106
  5.  Reis LM, Tyler RC, Muheisen S, et al. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013;132(7):761-770

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Updated on November 30, 2020
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