An autosomal dominant progressive congenital zonular nuclearcataract linked to chromosome 20p12.2-p11.23

[摘要] Purpose: To map and to identify the causal gene for autosomaldominant congenital cataract (ADCC) in a Chinese family.Methods: A four-generation family with a history of progressivecongenital cataracts was investigated. Twenty-three members of thefamily were examined ophthalmologically. Blood samples were collectedfrom twenty-nine family members for genetic linkage analysis. Two-pointLOD scores were calculated. Multi-point linkage analysis and haplotypeconstruction were performed to define the optimal cosegregatinginterval. Direct sequence analysis of the candidate gene, beadedfilament structural protein 1, filensin (BFSP1) in the criticalregion was carried out.Results: Fifteen family members were affected with autosomaldominant progressive congenital zonular nuclear cataract (ADPCZNC). Themaximum two-point LOD Score of 6.02 was obtained for marker D20S904(θ=0). The cataract locus in this family was mapped to chromosome20p12.2-p11.23, a 9.34 Mb (16.37 cM) interval between markers D20S186and D20S912. Although BFSP1 was in this critical region, we found noevidence that the condition in the family was caused by a BFSP1mutation.Conclusions: We have mapped the genetic locus of ADPCZNC tochromosome 20p12.2-p11.23 in an ADCC family. This is the first timeADPCZNC was linked to this region.

[学科分类] 生物化学/生物物理