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.