[关键词]
[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。
[Key word]
[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.
[中图分类号]
[基金项目]
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)
