Case Report
Volume: 5 | Issue: 1 | Published: May 30, 2022 | Pages: 25 - 28 | DOI: 10.24911/JBCGenetics/183-1631602838
A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism
Authors:
Khloud M. Al Rubaya
, Faten F. AlMijmaj
, Talal S. AlAnzi
, Abdullah A. AlJasser
Article Info
Authors
Khloud M. Al Rubaya
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Faten F. AlMijmaj
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Talal S. AlAnzi
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Abdullah A. AlJasser
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Publication History
Received: October 26, 2021
Revised: April 24, 2022
Accepted: May 09, 2022
Published: May 30, 2022
Abstract
Background: Isolated hypoparathyroidism comprises a set of heterogeneous inherited diseases associated with abnormal calcium metabolism exclusively due to parathyroid hormone (PTH) deficiency. Isolated hypoparathyroidism can be either sporadic or inherited. Genetic causes that impair the synthesis or secretion of PTH, such as calcium-sensing receptor and PTH defects, or defects in the development of the parathyroid gland [glial cell missing 2, (GCM2)], have been established as causes of familial isolated hypoparathyroidism. Transcription factor GCM2 is a crucial regulator of parathyroid gland homeostasis. Transmission of pathogenic variants encoding GCM2 occurs in an autosomal recessive or dominant manner. Case Presentation: Herein, we describe the case of a 12-year-old boy, born to consanguineous parents, who presented with abnormal movement during the first week of birth. Laboratory results revealed hypocalcemia, hyperphosphatemia, and low PTH levels. Genetic testing detected a novel homozygous variant in the GCM2 gene, c.391C>T (p.Arg131*). Although this variant has not been previously described, it is likely the pathogenic cause of this condition. Conclusion: To the best of authors' knowledge, this variant has not been listed in any database. Proper replacement therapy is likely to have good long-term outcomes for our patient.
Keywords: GCM2, GCMB, hypoparathyroidism, c.391C>T, CASR, case report
Pubmed Style
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. JBC Genetics. 2022; 30 (May 2022): 25-28. doi:10.24911/JBCGenetics/183-1631602838
Web Style
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. https://www.jbcgenetics.com/index.php/articles/2103 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1631602838
AMA (American Medical Association) Style
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. JBC Genetics. 2022; 30 (May 2022): 25-28. doi:10.24911/JBCGenetics/183-1631602838
Vancouver/ICMJE Style
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. JBC Genetics. (2022), [cited April 27, 2025]; 30 (May 2022): 25-28. doi:10.24911/JBCGenetics/183-1631602838
Harvard Style
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser (2022) A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. JBC Genetics, 30 (May 2022): 25-28. doi:10.24911/JBCGenetics/183-1631602838
Chicago Style
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser. "A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism." 30 (2022), 25-28. doi:10.24911/JBCGenetics/183-1631602838
MLA (The Modern Language Association) Style
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser. "A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism." 30.May 2022 (2022), 25-28. Print. doi:10.24911/JBCGenetics/183-1631602838
APA (American Psychological Association) Style
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser (2022) A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. , 30 (May 2022), 25-28. doi:10.24911/JBCGenetics/183-1631602838