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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):805-808
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摘要

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.

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