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GENATLAS PHENOTYPE
last update : 26-10-2018
Symbol CCA2
Location 22q11.2
Name cataract, congenital, cerulean, type 2
Other name(s)
  • cataract, congenital, "blue dot", type 2
  • cataract 3, multiple types
    • Corresponding gene CRYBB2 , CRYBB1
    Other symbol(s) CCC2, CCL, CTRCT3
    Main clinical features
  • pulverulent cataract, bilateral and consisted of fine, dust-like opacities that affected mainly the central zone, or fetal nucleus, of the lens but also affected the cortex and the anterior and posterior Y-suture regions
  • opacities were present from birth
  • bilateral congenital posterior subcapsular cataract (PMID:21245961))
    • Genetic determination autosomal dominant
    Related entries including any cases of Coppok-like cataract, cataract, sutural, with punctate and cerulean opacities (CSPC Omim 607133)
    Function/system disorder eye
    Type disease
    Gene product
    Name crystallin gene beta polypeptide B2 (CRYBB2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     W151C in exon 6, might possibly be involved in intramolecular disulphide bridges with other cysteines during translation, possibly leading to dramatic structural changes
    missense     c.92C>G in exon 2 of CRYBB2 causing S31W enhanced the local solubility
    missense     c.5C>T, p. A2V responsible for posterior subcapsular congenital cataract in a Chinese family (PMID:21245961)
    Remark(s) some cases due to a gene conversion between CRYB2 and CRYBB2P1, crystallin gene beta polypeptide B1
    Genotype/Phenotype correlations
  • X253R predicted to elongate the COOH-terminal extension of the protein and expected to disrupt beta-crystallin interactions, is associated to congenital cataract associated with microcornea