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Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

Li FF, Zhu SQ, Wang SZ, Gao C, Huang SZ, Zhang M, Ma X - Mol. Vis. (2008)

Bottom Line: All members were genotyped with microsatellite markers at loci previously associated with cataracts.This mutation cosegregated with all affected individuals and was not observed in any unaffected family member or 100 normal, unrelated individuals.These results provide evidence that CRYBB2 is a pathogenic gene for congenital cataracts; at the same time, congenital cataracts are a clinically and genetically heterogeneous lens condition.

View Article: PubMed Central - PubMed

Affiliation: Graduate School, Peking Union Medical College, Beijing, China.

ABSTRACT

Purpose: We sought to identify the genetic defect in a large, five-generation Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts and to examine the clinical features in detail.

Methods: Clinical and ophthalmologic examinations were conducted on family members. All members were genotyped with microsatellite markers at loci previously associated with cataracts. Two-point LOD scores were calculated using a linkage package after genotyping. A mutation was detected by direct sequencing and verified by denaturing high-performance liquid chromatography (DHPLC).

Results: Clinical observations showed that all affected family members had progressive polymorphic coronary cataracts. Linkage analysis was obtained at markers, D22S303 (LOD score [Z]=2.11, recombination fraction [theta]=0.0) and D22S1167 (Z=1.20, theta=0.0). Haplotype analysis indicated that the cataract gene was closely linked with these two markers. Sequencing the betaB-crystallin gene (CRYBB2) revealed a C --> T transition in exon 6, which changed a codon from Gln to a stop codon (P.Q155X). This mutation cosegregated with all affected individuals and was not observed in any unaffected family member or 100 normal, unrelated individuals.

Conclusions: This study identified a mutation in CRYBB2 in a large Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts. These results provide evidence that CRYBB2 is a pathogenic gene for congenital cataracts; at the same time, congenital cataracts are a clinically and genetically heterogeneous lens condition.

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Related in: MedlinePlus

Slit lamp photographs of an affected individual (III:23). The photographs of the affected individual III:23 showed that the opacities were coronary cataracts with punctate, asteroidal, and nuclear opacities. There were pulverulent opacities in the perinuclear areas of the right lens while pulverulent opacities in the left lens were lighter. They were also more coronal in the left eye.
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f1: Slit lamp photographs of an affected individual (III:23). The photographs of the affected individual III:23 showed that the opacities were coronary cataracts with punctate, asteroidal, and nuclear opacities. There were pulverulent opacities in the perinuclear areas of the right lens while pulverulent opacities in the left lens were lighter. They were also more coronal in the left eye.

Mentions: This five-generation family included 17 affected individuals with congenital special-type coronary cataracts (Figure 1) and 34 unaffected individuals. The diagnosis was confirmed by ophthalmologists. The clinical diagnosis of the family was progressive polymorphic coronary cataracts with punctate, asteroidal, and nuclear opacities. Each of the affected individuals showed a somewhat different phenotype; in some affected subjects, star-like opacification was present in the upper side of the posterior pole (Table 1). There was no history of other ocular or systemic abnormalities in the family.


Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

Li FF, Zhu SQ, Wang SZ, Gao C, Huang SZ, Zhang M, Ma X - Mol. Vis. (2008)

Slit lamp photographs of an affected individual (III:23). The photographs of the affected individual III:23 showed that the opacities were coronary cataracts with punctate, asteroidal, and nuclear opacities. There were pulverulent opacities in the perinuclear areas of the right lens while pulverulent opacities in the left lens were lighter. They were also more coronal in the left eye.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2335123&req=5

f1: Slit lamp photographs of an affected individual (III:23). The photographs of the affected individual III:23 showed that the opacities were coronary cataracts with punctate, asteroidal, and nuclear opacities. There were pulverulent opacities in the perinuclear areas of the right lens while pulverulent opacities in the left lens were lighter. They were also more coronal in the left eye.
Mentions: This five-generation family included 17 affected individuals with congenital special-type coronary cataracts (Figure 1) and 34 unaffected individuals. The diagnosis was confirmed by ophthalmologists. The clinical diagnosis of the family was progressive polymorphic coronary cataracts with punctate, asteroidal, and nuclear opacities. Each of the affected individuals showed a somewhat different phenotype; in some affected subjects, star-like opacification was present in the upper side of the posterior pole (Table 1). There was no history of other ocular or systemic abnormalities in the family.

Bottom Line: All members were genotyped with microsatellite markers at loci previously associated with cataracts.This mutation cosegregated with all affected individuals and was not observed in any unaffected family member or 100 normal, unrelated individuals.These results provide evidence that CRYBB2 is a pathogenic gene for congenital cataracts; at the same time, congenital cataracts are a clinically and genetically heterogeneous lens condition.

View Article: PubMed Central - PubMed

Affiliation: Graduate School, Peking Union Medical College, Beijing, China.

ABSTRACT

Purpose: We sought to identify the genetic defect in a large, five-generation Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts and to examine the clinical features in detail.

Methods: Clinical and ophthalmologic examinations were conducted on family members. All members were genotyped with microsatellite markers at loci previously associated with cataracts. Two-point LOD scores were calculated using a linkage package after genotyping. A mutation was detected by direct sequencing and verified by denaturing high-performance liquid chromatography (DHPLC).

Results: Clinical observations showed that all affected family members had progressive polymorphic coronary cataracts. Linkage analysis was obtained at markers, D22S303 (LOD score [Z]=2.11, recombination fraction [theta]=0.0) and D22S1167 (Z=1.20, theta=0.0). Haplotype analysis indicated that the cataract gene was closely linked with these two markers. Sequencing the betaB-crystallin gene (CRYBB2) revealed a C --> T transition in exon 6, which changed a codon from Gln to a stop codon (P.Q155X). This mutation cosegregated with all affected individuals and was not observed in any unaffected family member or 100 normal, unrelated individuals.

Conclusions: This study identified a mutation in CRYBB2 in a large Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts. These results provide evidence that CRYBB2 is a pathogenic gene for congenital cataracts; at the same time, congenital cataracts are a clinically and genetically heterogeneous lens condition.

Show MeSH
Related in: MedlinePlus