一个遗传性低镁血症继发低钙血症家系的TRPM6基因变异分析

Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia

目的对1例遗传性低镁血症继发低钙血症患儿的TRPM6基因进行变异分析,探讨其分子遗传学发病机制。方法应用Sanger测序法对患儿及父母的TRPM6基因进行变异分析。结果测序结果显示患儿TRPM6基因存在c.3311C>T(p.Pro1104Leu)纯合变异,其父母均为c.3311C>T(p.Pro1104Leu)杂合变异携带者。经查询相关数据库c.3311C>T变异为未报道过的新变异,蛋白功能分析软件预测其具有高致病风险。结论TRPM6基因c.3311C>T(p.Pro1104Leu)变异可能是患儿的致病原因,新变异的发现丰富了TRPM6基因变异谱。

Objective To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia. Methods Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents. Results The results showed that the patient has carried novel homozygous c. 3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity. Conclusion The homozygous c. 3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient.