TRPM6 Gene Mutations in Two Siblings of Genetic Hypomagnesemia With Hypocalcemia And Hypoparathyroidism

Nese Akcan; Ruveyde Bundak

Volume : VII, Issue : XII, December - 2018

TRPM6 Gene Mutations in Two Siblings of Genetic Hypomagnesemia With Hypocalcemia And Hypoparathyroidism

Nese Akcan, Ruveyde Bundak

Abstract :

Hypomagnesemia can cause neuromuscular irritability, seizures and cardiac arrhythmias. Mutations in the gene of transient receptor potential cation channel subfamily M member 6 (TRPM6) cause the most profound genetic hypomagnesemia. We described two siblings with TRPM6 mutations. First case was applied with seizure at 5–month old and she had hypomagnesemia, hypocalcemia and hypoparathyroidism. Second case had also seizure with hypomagnesemia, hypocalcemia on newborn period. The molecular analysis confirmed the genetic cause of hypomagnesemia in cases by identifying the pathological homozygous variants c.2667+1G>A in TRPM6. To conclude, magnesium levels should also be checked in cases with hypocalcemia and hypoparathyroidism, genetic causes should be considered in case of hypomagnesemia and molecular analysis should be prioritized for early diagnosis.