Wussuki-Lior O, Abu-Horowitz A, Netzer I, Almer Z, Morad Y, Goldich Y, Yahalom V, Pras El, Pras Er
Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel.
Mol Vis. 2011 Apr 24;17:1011-5.
To date, more than thirty nine genetic loci have been associated with congenital cataracts. Despite this progress, current diagnostic techniques are insufficient for unraveling the underlying genetic defect in sporadic patients and small families. In the present manuscript we demonstrate the contribution of routine laboratory tests in the search for genetic defects of childhood cataracts.
Two families with congenital cataracts and hematologic findings that included hyperferritinemia and the "ii" blood type underwent detailed ophthalmologic and clinical examinations. Mutation analysis of the ferritin light chain (FTL) and glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (GCNT2) genes was performed in the two families, respectively.
In the family with the "ii" blood group we found a novel GCNT2 mutation c.G935A (p.G312D) in the cataract patients, while in the family with hyperferritinemia cataract syndrome we identified a G→C heterozygous mutation at position +32 of FTL.
Hematologic biomarkers may simplify the search for the underlying molecular defect in families with congenital cataract.
迄今为止，已有超过39个基因位点与先天性白内障相关。尽管取得了这一进展，但目前的诊断技术仍不足以揭示散发性患者和小家庭中潜在的基因缺陷。在本论文中，我们展示了常规实验室检查在寻找儿童白内障基因缺陷方面的作用。
对两个患有先天性白内障且有血液学表现（包括高铁蛋白血症和“ii”血型）的家庭进行了详细的眼科和临床检查。分别对这两个家庭进行了铁蛋白轻链（FTL）和葡糖胺基（N-乙酰）转移酶2、I-分支酶（GCNT2）基因的突变分析。
在“ii”血型的家庭中，我们在白内障患者中发现了一种新的GCNT2突变c.G935A（p.G312D），而在高铁蛋白血症白内障综合征家庭中，我们在FTL的+32位鉴定出一个G→C杂合突变。
血液学生物标志物可能会简化对先天性白内障家庭中潜在分子缺陷的寻找。
