CRYBA1 gene

Overview

Gene (OMIM No.)	CRYBA1 (#123610)
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	Congenital cataracts (congenital zonular with sutural opacities, nuclear or lamellar) Nystagmus
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 diagnosis	Next generation sequencing Targeted gene panels (cataract) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of congenital cataract
Therapies under research	None at present
Further information	OMIM

Carper D. Deficiency of functional messenger RNA for a developmentally regulated beta-crystallin polypeptide in a hereditary cataract. Science. 1982;217(4558):463‐464
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
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
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

Updated on November 30, 2020