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Five patients with disorders of calcium metabolism presented with GCM2 gene variants

Alejandro García-Castaño1, Leire Madariaga2, Sara Gómez-Conde3

  • 1Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Plaza de Cruces, Barakaldo, 48903, Bizkaia, Spain. alejandro.garciacastano@osakidetza.eus.

Scientific Reports
|February 4, 2021
PubMed

Insights

Next-generation sequencing identified GCM2 gene variants in patients with calcium metabolism disorders. This highlights GCM2

Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • The GCM2 gene is crucial for parathyroid cell development, proliferation, and maintenance.
  • Disorders of calcium metabolism can stem from genetic factors affecting parathyroid function.

Purpose of the Study:

  • To investigate the genetic basis of calcium metabolism disorders in a Spanish cohort.
  • To identify mutations in the GCM2 gene and assess their role in calcium homeostasis.

Main Methods:

  • Screening of 127 Spanish patients with calcium metabolism disorders using Next-Generation Sequencing (NGS).
  • Utilized a targeted gene panel encompassing 65 genes related to calcium and phosphorus metabolism disorders.

Main Results:

  • Identified two variants of uncertain significance (p.(Ser487Phe), p.Asn315Asp), one likely pathogenic variant (p.Val382Met), and one benign variant (p.Ala393_Gln395dup) in the GCM2 gene.
  • These heterozygous variants were found in five families presenting with hypocalcemia, hypoparathyroidism, or primary hyperparathyroidism.
  • A novel GCM2 variant (p.(Ser487Phe)) was identified in a patient with hypocalcemia.

Conclusions:

  • Next-Generation Sequencing is effective for diagnosing genetic causes of calcium and phosphorus metabolism disorders.
  • The GCM2 gene plays a significant role in maintaining calcium homeostasis.
  • The study identified novel and likely pathogenic variants in GCM2, expanding the understanding of its role in parathyroid function and calcium metabolism.

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