Li Jinyu, Wang Qiwei, Fu Qiuyue, Zhu Yanan, Zhai Yi, Yu Yinhui, Zhang Kai, Yao Ke
Eye Center of the 2nd Affiliated Hospital, Medical College of Zhejiang University, Hangzhou, China.
Mol Vis. 2013 Apr 5;19:767-74. Print 2013.
To characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract.
Detailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Candidate genes were amplified using PCR and screened for mutations using bidirectional sequencing.
Affected individuals had nuclear and zonular pulverulent cataract with Y-sutural opacities. Sequencing of the candidate genes revealed a heterozygous c. 139G>C change in the coding sequence of the connexin 50 gene (gap junction protein, alpha 8 [GJA8]), which results in the substitution of a wild-type aspartic acid with a histidine (D47H). This mutation cosegregated with all affected individuals in the family and was not found in unaffected family members or in 100 unrelated controls.
Our study has identified a novel connexin 50 gene (GJA8) mutation, resulting in the amino substitution p. D47H in a Chinese family with nuclear and zonular pulverulent congenital cataracts. This mutation is probably the causative lesion for the observed phenotype in this family.
对一个患有双侧先天性核性和板层粉状白内障的中国家系的四代成员进行致病突变特征分析。
记录详细的家族史和临床资料。使用裂隙灯摄影记录表型。通过聚合酶链反应（PCR）扩增候选基因，并使用双向测序筛选突变。
受累个体患有核性和板层粉状白内障伴Y缝混浊。候选基因测序显示连接蛋白50基因（缝隙连接蛋白，α8 [GJA8]）编码序列中存在杂合的c.139G>C变化，导致野生型天冬氨酸被组氨酸替代（D47H）。该突变与家族中所有受累个体共分离，在未受累家庭成员或100名无关对照中未发现。
我们的研究在一个患有核性和板层粉状先天性白内障的中国家系中鉴定出一种新的连接蛋白50基因（GJA8）突变，导致氨基酸替代p.D47H。该突变可能是该家系中观察到的表型的致病损伤。
