A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype

[摘要] Purpose: To describe the finding of anovel calcium binding protein 4 (CABP4) mutation in a familywith Leber congenital amaurosis (LCA) phenotype. Methods: Homozygosity mapping wasperformed in a consanguineous family with four affected membersoriginally referred as cases of LCA. Detailed electroretinographicrecordings were obtained. Results: A novel homozygous singlebase-pair insertion was identified in all four siblings. The patientshad an LCA-like phenotype, including either flat or greatly diminishedelectroretinographic activity. Conclusions: This report significantlyexpands on the phenotype associated with calcium binding protein 4mutations, which has so far been limited to congenital stationary nightblindness, and further demonstrates how molecular data often blur theboundaries between what are believed to be clinically distinct retinaldisorders.

[学科分类] 生物化学/生物物理