A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations

[摘要] Purpose: To characterize thedisease-causing mutations in a Chinese family with progressivechildhood cataracts. Methods: Family history and clinicaldata were recorded. Direct gene sequencing together with multi-pointlinkage analysis using microsatellite markers flanking the gene wasapplied to identify the disease-causing mutation. Results: Lens examination in theaffected members revealed childhood cataracts along with progressivedeveloping fetal nuclear lactescent cataracts with ‘Y’ suturalopacities, and also progressive developing peripheral corticalopacities. Direct gene sequencing showed a G>A transition at thedonor splice site of intron 3 (IVS3+1 G>A) of the βA1/A3-crystallingene (CRYBA3/A1) in this Chinese autosomal dominant childhoodcataract family, and the maximum heterogeneity logarithm of odds (HLOD)score obtained by multi-point analysis was detected at marker locusD17S1800 (HLOD=3.005; α=1.000). Conclusions: To our knowledge, this isthe first report of a phenotype of progressive nuclear and corticalcataracts related to the CRYBA3/A1 mutation IVS3+1 G>A. Thisfinding expands the spectrum of cataract phenotypes caused by theIVS3+1 G>A mutation of CRYBA3/A1, confirms the phenotypicheterogeneity of this mutation and suggests the mechanism thatinfluences the cataractogenesis in different ethnic backgrounds.

[学科分类] 生物化学/生物物理