Case Report
JBCGenetics. 2022; 5(2):

A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism

Authors: Khloud M Al Rubaya, Faten F AlMijmaj, Talal AlAnzi, Abdullah A Aljasser.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1631602838

Abstract

Background: Isolated hypoparathyroidism comprises a set of heterogeneous inherited diseases associated with abnormal calcium metabolism exclusively due to parathyroid hormone (PTH) deficiency. Isolated hyperparathyroidism 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


© Copyright: Author(s)

A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism


Authors
Khloud M Al Rubaya
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Faten F AlMijmaj
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Talal AlAnzi
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Abdullah A Aljasser
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
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Correspondence to:
. Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; khloud.rubaya@hotmail.com

Publication history
Received 26 Oct 2021
Revised 24 Apr 2022
Accepted 09 May 2022
Published online 30 May 2022

How to cite this article

Pubmed Style

Rubaya KMA, AlMijmaj FF, AlAnzi T, Aljasser AA. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. JBCGenetics. Online First: 30 May, 2022. doi:10.24911/JBCGenetics/183-1631602838


Web Style

Rubaya KMA, AlMijmaj FF, AlAnzi T, Aljasser AA. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. https://www.jbcgenetics.com//?mno=124552 [Access: October 02, 2022]. doi:10.24911/JBCGenetics/183-1631602838


AMA (American Medical Association) Style

Rubaya KMA, AlMijmaj FF, AlAnzi T, Aljasser AA. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. JBCGenetics. Online First: 30 May, 2022. doi:10.24911/JBCGenetics/183-1631602838


Vancouver/ICMJE Style

Rubaya KMA, AlMijmaj FF, AlAnzi T, Aljasser AA. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. JBCGenetics, [cited October 02, 2022]; Online First: 30 May, 2022. doi:10.24911/JBCGenetics/183-1631602838


Harvard Style

Rubaya, K. M. A., AlMijmaj, . F. F., AlAnzi, . T. & Aljasser, . A. A. (2022) A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. JBCGenetics, Online First: 30 May, 2022. doi:10.24911/JBCGenetics/183-1631602838


Turabian Style

Rubaya, Khloud M Al, Faten F AlMijmaj, Talal AlAnzi, and Abdullah A Aljasser. 2022. A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. Journal of Biochemical and Clinical Genetics, Online First: 30 May, 2022. doi:10.24911/JBCGenetics/183-1631602838


Chicago Style

Rubaya, Khloud M Al, Faten F AlMijmaj, Talal AlAnzi, and Abdullah A Aljasser. "A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism." Journal of Biochemical and Clinical Genetics Online First: 30 May, 2022. doi:10.24911/JBCGenetics/183-1631602838


MLA (The Modern Language Association) Style

Rubaya, Khloud M Al, Faten F AlMijmaj, Talal AlAnzi, and Abdullah A Aljasser. "A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism." Journal of Biochemical and Clinical Genetics Online First: 30 May, 2022. Web. 02 Oct 2022 doi:10.24911/JBCGenetics/183-1631602838


APA (American Psychological Association) Style

Rubaya, K. M. A., AlMijmaj, . F. F., AlAnzi, . T. & Aljasser, . A. A. (2022) A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism. Journal of Biochemical and Clinical Genetics, Online First: 30 May, 2022. doi:10.24911/JBCGenetics/183-1631602838


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