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Dan Gill, Robert Klose, Francis L. Munier, Michelle McFadden, Megan Priston, Gail Billingsley, Nicolas Ducrey, Daniel F. Schorderet, Elise Héon; Genetic Heterogeneity of the Coppock-like Cataract: A Mutation in CRYBB2 on Chromosome 22q11.2. Invest. Ophthalmol. Vis. Sci. 2000;41(1):159-165.
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purpose. To identify the genetic defect for the Coppock-like cataract (CCL)
affecting a Swiss family, which defect was unlinked to the chromosome
2q33-35 CCL locus.
methods. A large family was characterized for linkage analysis by slit lamp
examination or by the review of drawings made before cataract
extraction. The affection status was attributed before genotyping, and
the genotyping was masked to the affection status. Two-point and
multipoint linkage analyses were performed using the MLINK and the
LINKMAP components of the LINKAGE program package (ver. 5.1),
respectively. Mutational analysis of candidate genes was performed by a
combination of direct cycle sequencing and an amplification refractory
mutation system assay.
results. Ten individuals were affected with the CCL phenotype. The disease was
autosomal dominant and appeared to be fully penetrant. A new CCL locus
was identified on chromosome 22q11.2 within a 11.67-cM interval
(maximum lod score [Zmax] = 4.14; θ = 0).
Mutational analysis of the CRYBB2 candidate gene
identified a disease-causing mutation in exon 6. This sequence change
was identical with that previously described to be associated with the
cerulean cataract, a clinically distinct entity.
conclusions. The CCL phenotype is genetically heterogeneous with a second gene on
chromosome 22q11.2, CRYBB2. The CCL and the cerulean
cataract are two distinct clinical entities associated with the same
genetic defect. This work provides evidence for a modifier factor that
influences cataract formation and that remains to be
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