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Hormones

, Volume 14, Issue 2, pp 321–325 | Cite as

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros

  • Evaggelia Zapanti
  • Aikaterini Polonifi
  • Michalis Kokkinos
  • George Boutzios
  • Georgia Kassi
  • Narjes Nasiri Ansari
  • Eva Kassi
  • Aris Polyzos
Letter to the Editor

Abstract

PURPOSE

Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH). Here we report three siblings with FHH caused by a novel mutation in the CASR.

METHODS

The case subject was a 60-year-old patient referred because of mild hypercalcaemia, increased PTH levels and persistently low calcium/creatinine ratio. FHH was suspected and a family biochemical and genetic analysis was performed.

RESULTS

Sequencing of the CASR gene revealed a frameshift mutation (Val258Arg) in the extracellular domain of the CASR that creates a premature 46 amino acids stop codon which leads to a truncated protein that might affect its function. This heterozygous loss-of-function mutation in the CaSR gene causes reduced CaSR sensing ability resulting in the clinical manifestation of FHH.

CONCLUSION

We hereby report the identification of a novel heterozygous loss-of-function mutation of the CASR gene in a Greek family from Nisyros island. Functional studies are needed to clarify the exact role of this mutation in CASR activity.

Key words

Calcium-sensing receptor Familial hypocalciuric hypercalcaemia Mutation Single nucleotide polymorphism 

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Copyright information

© Hellenic Endocrine Society 2015

Authors and Affiliations

  • Evaggelia Zapanti
    • 1
  • Aikaterini Polonifi
    • 2
  • Michalis Kokkinos
    • 2
  • George Boutzios
    • 2
  • Georgia Kassi
    • 1
  • Narjes Nasiri Ansari
    • 3
  • Eva Kassi
    • 3
  • Aris Polyzos
    • 2
  1. 1.First Endocrine DepartmentAlexandra HospitalAthensGreece
  2. 2.First Department of Internal Medicine, Laikon General HospitalAthens University School of MedicineAthensGreece
  3. 3.Laboratory of Biological Chemistry, Medical SchoolUniversity of AthensGoudi, AthensGreece

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