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1 From the Eye Research Institute of Canada and the 4 Department of Ophthalmology, University of Toronto; the 5 Hospital for Sick Children Research Institute, Toronto, Canada; and 2 Hôpital Ophthalmique Jules Gonin, Unité de Génétique Moléculaire, Division de Génétique Médicale, 3 Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
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; 
= 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 identified.
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