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Gene Review

CRYBB1  -  crystallin, beta B1

Homo sapiens

Synonyms: Beta-B1 crystallin, Beta-crystallin B1, CATCN3, CTRCT17
 
 
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High impact information on CRYBB1

  • Sequencing failed to detect any nucleotide changes in CRYBA4; however, a G-->T transversion in exon 6 of CRYBB1 was found to cosegregate with cataract in the family [1].
  • A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q [1].
  • CRYBB1 was assigned to the group 5 region in 22q11.2-q12.1 by hybridizing the exon 6 PCR product to somatic cell hybrids containing defined portions of human chromosome 22 [2].
  • RESULTS: Sequencing of the coding regions and flanking intronic sequences of CRYBB2 and CRYBB1 showed the presence of a novel, heterozygous X253R change in exon 6 of CRYBB1 [3].

References

  1. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Mackay, D.S., Boskovska, O.B., Knopf, H.L., Lampi, K.J., Shiels, A. Am. J. Hum. Genet. (2002) [Pubmed]
  2. Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5. Hulsebos, T.J., Gilbert, D.J., Delattre, O., Smink, L.J., Dunham, I., Westerveld, A., Thomas, G., Jenkins, N.A., Copeland, N.G. Genomics (1995) [Pubmed]
  3. CRYBB1 mutation associated with congenital cataract and microcornea. Willoughby, C.E., Shafiq, A., Ferrini, W., Chan, L.L., Billingsley, G., Priston, M., Mok, C., Chandna, A., Kaye, S., Héon, E. Mol. Vis. (2005) [Pubmed]
 
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