Wolfram综合征一家系的临床及遗传学分析
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国家自然科学基金资助项目(No.82070963,82271087); 深圳市科技计划项目(No.JCYJ20190807153005579)


Clinical and genetic analysis of a pedigree with Wolfram syndrome
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National Natural Science Foundation of China(No.82070963, 82271087); Shenzhen Science and Technology Plan Program(No.JCYJ20190807153005579)

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    摘要:

    目的:研究由WFS1基因突变所导致的常染色体隐性遗传Wolfram综合征的临床特征和遗传学背景。

    方法:应用临床检查,基因分析和生物信息学方法研究一常染色体隐性遗传Wolfram综合征家系。

    结果:发现先证者及哥哥患糖尿病、色弱及视神经病变,此外其兄患尿崩症。全外显子组分析显示在兄弟二人的WFS1基因8号外显子存在两种杂合变异,即c.941G>A(p.W314X)和c.2309T>G(p.F770C),并在该家系中与临床表型共分离。

    结论:WFS1基因的复合杂合突变与该家系Wolfram综合征相关,其中c.941G>A(p.W314X)尚未见报道。

    Abstract:

    AIM: To investigate the clinical features and genetic background of autosomal recessive Wolfram syndrome caused by WFS1 gene mutation.

    METHODS: A pedigree with autosomal recessive Wolfram syndrome was studied by clinical examination, gene analysis and bioinformatics.

    RESULT: It was found that the proband and his brother had diabetes, color weakness and optic neuropathy. In addition, his brother had diabetes insipidus. Whole-exome sequencing(WES)analysis showed that there were two heterozygous variations in the WFS1 gene exon 8 of the two brothers: c.941G>A(p.W314X)and c.2309T>G(p.F770C), and were co-separated from the clinical phenotype in this family.

    CONCLUSION: The compound heterozygous mutation of WFS1 gene is associated with Wolfram syndrome in this pedigree. Among them, c.941G>A(p.W314X)has not been reported yet.

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陈子杰,毛禹凯,樊宁,等. Wolfram综合征一家系的临床及遗传学分析.国际眼科杂志, 2023,23(11):1930-1934.

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  • 收稿日期:2023-06-05
  • 最后修改日期:2023-09-22
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  • 在线发布日期: 2023-10-24
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