[A case report of primary hypomagnesemia with secondary hypocalcemia caused by TRPM6 gene variants]

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Mei-Yu Zhou1, Xing-Jia Tang1, Shao-Xin Lin1

  • 1Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou 510630, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|January 26, 2026
PubMed

Insights

Severe hypomagnesemia in an infant caused by novel TRPM6 gene variants led to convulsions. Early magnesium supplementation successfully controlled symptoms and prevented neurological damage.

Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Infants can present with severe hypomagnesemia and hypocalcemia, leading to serious health issues.
  • Recurrent convulsions in neonates necessitate prompt diagnosis and intervention.
  • Genetic factors play a crucial role in certain metabolic disorders affecting infants.

Purpose of the Study:

  • To identify the genetic cause of recurrent convulsions in an infant with hypomagnesemia and hypocalcemia.
  • To investigate the role of the TRPM6 gene in primary hypomagnesemia.
  • To evaluate the efficacy of early magnesium supplementation in managing this condition.

Main Methods:

  • Whole-exome sequencing was employed to identify pathogenic variants.
  • Genetic analysis was performed to determine the inheritance pattern of the identified variants.
  • Clinical follow-up was conducted to assess the long-term effects of treatment.

Main Results:

  • Compound heterozygous pathogenic variants (c.5616G>A and exon 20-23 deletion) were identified in the TRPM6 gene.
  • These novel variants were inherited from both parents, confirming a genetic etiology.
  • Infant's convulsions ceased following oral magnesium sulfate supplementation, with persistent normocalcemia at 8-year follow-up.

Conclusions:

  • Genetic testing is essential for diagnosing primary hypomagnesemia with secondary hypocalcemia.
  • Early and consistent magnesium supplementation is crucial for symptom control and preventing neurological sequelae.
  • Novel TRPM6 variants can cause severe infantile hypomagnesemia, highlighting the importance of genetic diagnostics.

Keywords:
ChildNovel variantPrimary hypomagnesemia with secondary hypocalcemiaTRPM6 geneTreatment

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