Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.
Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.
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先天性眼球震颤家族 FRMD7 基因中新突变 p.I240T 的鉴定
DOI：
10.1038/srep03084
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发表时间：
2013-10-30
影响因子：
4.6
通讯作者：
Gu, Feng
中科院分区：
文献类型：
--
作者：
Zhu, Yihua;Zhuang, Jianfu;Ge, Xianglian;Zhang, Xiao;Wang, Zheng;Sun, Ji;Yang, Juhua;Gu, Feng
先天性眼球震颤（CN）是一种遗传性异源性眼部疾病，在儿童视力损害中占很大比例。为了确定一个CN家族的潜在遗传缺陷，我们招募了22名成员。基因型分析表明，受影响个体与FRMD7位点侧的标记具有共同的单倍型。测序结果显示，FRMD7外显子8有一个T >； C过渡，导致异亮氨酸在密码子240处保守替换为酪氨酸。通过蛋白质结构建模，我们发现突变可能破坏疏水核心并破坏蛋白质结构。我们回顾了文献，发现外显子2、8和9（占FRMD7 mRNA序列的11.4%）代表了大多数（55.3%）已报道的FRMD7突变。总之，我们在FRMD7中发现了一个新的突变，显示了其分子后果，并揭示了FRMD7基因的突变丰富的外显子。总的来说，这为未来CN临床遗传诊断和治疗提供了分子见解。
Congenital Nystagmus (CN) is a genetically heterogeneous ocular disease, which causes a significant proportion of childhood visual impairment. To identify the underlying genetic defect of a CN family, twenty-two members were recruited. Genotype analysis showed that affected individuals shared a common haplotype with markers flanking FRMD7 locus. Sequencing FRMD7 revealed a T > C transition in exon 8, causing a conservative substitution of Isoleucine to Tyrosine at codon 240. By protein structural modeling, we found the mutation may disrupt the hydrophobic core and destabilize the protein structure. We reviewed the literature and found that exons 2, 8, and 9 (11.4% of the sequence of FRMD7 mRNA) represent the majority (55.3%) of the reported FRMD7 mutations. In summary, we identified a novel mutation in FRMD7, showed its molecular consequence, and revealed the mutation-rich exons of the FRMD7 gene. Collectively, this provides molecular insights for future CN clinical genetic diagnosis and treatment.
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影响因子：
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作者：
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