Skip Navigation
Skip to contents

Endocrinol Metab : Endocrinology and Metabolism


Author index

Page Path
Munkhtugs Davaatseren  (Davaatseren M) 1 Article
Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review
Joon-Hyop Lee, Munkhtugs Davaatseren, Sihoon Lee
Endocrinol Metab. 2020;35(1):64-70.   Published online March 19, 2020
  • 4,669 View
  • 101 Download
  • 6 Citations
AbstractAbstract PDFPubReader   ePub   

Since parathyroid hormone (PTH) was first isolated and its gene (PTH) was sequenced, only eight PTH mutations have been discovered. The C18R mutation in PTH, discovered in 1990, was the first to be reported. This autosomal dominant mutation induces endoplasmic reticulum stress and subsequent apoptosis in parathyroid cells. The next mutation, which was reported in 1992, is associated with exon skipping. The substitution of G with C in the first nucleotide of the second intron results in the exclusion of the second exon; since this exon includes the initiation codon, translation initiation is prevented. An S23P mutation and an S23X mutation at the same residue were reported in 1999 and 2012, respectively. Both mutations resulted in hypoparathyroidism. In 2008, a somatic R83X mutation was detected in a parathyroid adenoma tissue sample collected from a patient with hyperparathyroidism. In 2013, a heterozygous p.Met1_Asp6del mutation was incidentally discovered in a case-control study. Two years later, the R56C mutation was reported; this is the only reported hypoparathyroidism-causing mutation in the mature bioactive part of PTH. In 2017, another heterozygous mutation, M14K, was detected. The discovery of these eight mutations in the PTH gene has provided insights into its function and broadened our understanding of the molecular mechanisms underlying mutation progression. Further attempts to detect other such mutations will help elucidate the functions of PTH in a more sophisticated manner.


Citations to this article as recorded by  
  • Molecular and Clinical Spectrum of Primary Hyperparathyroidism
    Smita Jha, William F Simonds
    Endocrine Reviews.2023; 44(5): 779.     CrossRef
  • Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation
    Savita Khadse, Vrushali Satish Takalikar, Radha Ghildiyal, Nikhil Shah
    BMJ Case Reports.2023; 16(9): e256358.     CrossRef
  • Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone
    Patrick Hanna, Ashok Khatri, Shawn Choi, Severine Brabant, Matti L. Gild, Marie L. Piketty, Bruno Francou, Dominique Prié, John T. Potts, Roderick J. Clifton-Bligh, Agnès Linglart, Thomas J. Gardella, Harald Jüppner
    Proceedings of the National Academy of Sciences.2023;[Epub]     CrossRef
  • Genetics of monogenic disorders of calcium and bone metabolism
    Paul J. Newey, Fadil M. Hannan, Abbie Wilson, Rajesh V. Thakker
    Clinical Endocrinology.2022; 97(4): 483.     CrossRef
  • Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child
    Stine Linding Andersen, Anja Lisbeth Frederiksen, Astrid Bruun Rasmussen, Mette Madsen, Ann-Margrethe Rønholt Christensen
    Journal of Pediatric Endocrinology and Metabolism.2022; 35(5): 691.     CrossRef
  • Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism
    Colin P Hawkes, Jamal M Al Jubeh, Dong Li, Susan E Tucker, Tara Rajiyah, Michael A Levine
    The Journal of Clinical Endocrinology & Metabolism.2022; 107(6): e2449.     CrossRef
Close layer

Endocrinol Metab : Endocrinology and Metabolism