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We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study.
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conserved Trp residues might play a more crucial role in the correct folding and structural integrity of beta-crystallin domains than in gamma-crystallins
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The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2
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Study demonstrates that, in solution, human betaB2-crystallin is not domain swapped and exhibits a face-en-face dimer structure similar to the crystal structure of truncated betaB1-crystallin.
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This is the first study to analyze the association between genetic variations in the CRYBB2 gene with PCa. rs9608380, associated with Prostate cancer, is a potentially functional variant
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Congenital cataracts were caused by the de novo gene conversion event in CRYBB2 in a consanguineous Jewish Ashkenazi family.
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missense mutation in CRYBB2 gene leads to progressive congenital membranous cataract by impacting the solubility and function of betaB2-crystallin
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The distinct behaviors of the mutants suggested that the residue at position 188 might play a regulatory role in betaB2-crystallin aggregation/fibrillization but not reside in the core of the aggregates/fibrils.
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The last strand at the C-terminus of CRYBB2 is important for the protein stability and assembly.
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Identification of the first CRYBB2 mutation in an Italian family causing a clinical picture of autosomal dominant congenital cataract.
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The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of betaB2-crystallin.
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A novel missense mutation, p.Arg188His, in CRYBB2 is associated with congenital cataract in a family of Croatian origin.
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The Asp residue at position 4 of betaB2-crystallin in the lenses of the aged human eye lenses undergoes a significant degree of inversion and isomerization to the biologically D-beta-Asp.
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analysis of a novel CRYBB2 gene mutation, resulting in the amino substitution p. A2V in a Chinese family with posterior subcapsular congenital cataracts
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Analyses of 20 Chinese families with hereditary nuclear congenital cataract revealed 3 novel mutations. Two of these mutations (V146M and I21N) affected betaB2-crystallin (CRYBB2). One mutation (R233H) was detected in betaB1-crystallin (CRYBB1).
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a novel cataract-causing mutation, c.92C>G in exon 2 of the CRYBB2 gene, which causes the 31st residue serine substituted by tryptophan (S31W), was identified in an autosomal dominant coronary cataract family.
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Two new mutations, one in GJA3 and the other in CRYBB2, were identified co-segregating along with the respective cataract phenotype within the families that were not seen in healthy controls from India or Germany.
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Variant alleles of the CRYBB1 and CRYBB2 genes were found, none are considered pathogenic.
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calculation of the standard free-energy by equilibrium unfolding transition in guanidine hydrochloride
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Results show that betaB2-crystallin undergoes age-related truncation producing fragments with M(r) between 4 and 19kDa that are present in the beta(H)-crystallin oligomer.
