Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP
Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP
复制标题
蔚蓝白内障定位于 12q13 并与 MIP 中的新起始密码子突变相关
作者：
Jia X;Li W;Li S;Wang P;Sun W;Xiao X（肖学珊）;Guo X;Zhang Q;Li L
Purpose To identify the genetic defect in a large Chinese family with autosomal dominant cerulean cataract. Methods Genomic DNA and clinical data were collected from the family. Candidate gene sequencing and genome-wide linkage analysis were used to disclose the molecular basis responsible for cerulean cataract in the family. Results Initially, sequencing analysis of the three genes (beta-B2-crystallin [CRYBB2], gamma-D-crystallin [CRYGD], and V-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog [MAF]) known to cause cerulean cataract failed to find any mutation. Then, genome-wide linkage analysis mapped the disease to chromosome 12q13-q22 between D12S85 and D12S351, with a maximum lod score of 4.10 at θ=0. Sequence analysis of the major intrinsic protein of lens fiber gene (MIP), a gene known to cause other types of cataract in the linkage interval, detected a novel heterozygous initiation codon mutation, c.2T>C (p.Met1?). This mutation was present in all patients with cerulean cataract but was not present in any of the 13 unaffected family members nor in 96 control individuals. Conclusions Cerulean cataract was found in a large family and is caused by a novel initiation codon mutation in MIP. This study adds a new member in the existing list of genes causing cerulean cataract and expands the mutation spectrum and phenotypic association of MIP mutations.
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影响因子：
13.7
作者：
Haargaard, B;Wohlfahrt, J;Melbye, M
通讯作者：
Melbye, M
影响因子：
2.2
作者：
A. Shiels;T. Bennett;J. Hejtmancik
通讯作者：
A. Shiels;T. Bennett;J. Hejtmancik
影响因子：
2.2
作者：
Guoxing Yang;G. Zhang;Qiang Wu;Jialiang Zhao
通讯作者：
Guoxing Yang;G. Zhang;Qiang Wu;Jialiang Zhao
影响因子：
2.2
作者：
K. Wang;Sha Sha Li-Sha;Bo Yun;W. Ma;T. Jiang;Si-quan Zhu
通讯作者：
K. Wang;Sha Sha Li-Sha;Bo Yun;W. Ma;T. Jiang;Si-quan Zhu
影响因子：
2.2
作者：
Feng Gu;H. Zhai;Dan Li;Lu-hang Zhao;Chao Li;Shangzhi Huang;Xu Ma
通讯作者：
Feng Gu;H. Zhai;Dan Li;Lu-hang Zhao;Chao Li;Shangzhi Huang;Xu Ma