一例原发低镁血症继发低钙血症患儿的临床特点和TRPM6基因突变分析

Clinical features and TRPM6 mutations of an infant with hypomagnesemia with secondary hypocalcemia

目的分析1例原发低镁血症继发低钙血症患儿的临床特征及TRPM6 基因突变特点。方法归纳患儿的临床资料,提取患儿及其父母外周血DNA标本,采用全外显子组捕获测序技术检测致病突变,并对检测到的突变进行Sanger测序验证。结果患儿TRPM6基因发生c.5538delA(p.Q1846Qfs*2)的纯合突变,突变分别来自于父母,经检索PubMed、OMIM等国内外文献数据库,为一个未见报道的新突变。结论TRPM6基因c.5538delA纯合突变可能为患儿致病原因。本研究结果扩展了TRPM6基因突变谱,为患儿病因诊断及该家系的遗传咨询和产前诊断提供了分子依据。

Objective To explore the clinical features and mutations of the TRPM6 gene in an infant featuring hypomagnesemia and secondary hypocalcemia. Methods Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Targeted exome sequencing was carried out to screen the potential mutations. Suspected mutations were verified by Sanger sequencing. Results A novel homozygous c. 5538delA (p.Q1846Qfs*2) mutation in the TRPM6 gene was identified in the proband, for which both of her parents were heterozygous carriers. Conclusion The homozygous frameshift mutation of TRPM6 gene (c.5538delA) probably underlies the disease in the proband. The finding has expanded the mutation spectrum of TRPM6 gene.