A Novel Mutation of the Calcium Sensing Receptor Gene in a Franconian Kindred: Heterozygous Mutation c.1697_1698delTG Exon 6

Cordes M, Kuwert T, Haag C, Raue F (2017)

Publication Type: Journal article

Publication year: 2017

Journal

Hormone and Metabolic Research Thieme Publishing / Georg Thieme Verlag

Book Volume: 49

Pages Range: 142-146

Journal Issue: 2

DOI: 10.1055/s-0042-120415

Abstract

Familial hypocalciuric hypercalcemia (FHH) belongs to the disorders of a disturbed calcium homeostasis. Genetically, the disorder is inherited in an autosomal-dominant trait and represents an inactivating mutation of the calcium sensing receptor (CaSR) gene. We identified a Franconian kindred in which 6 individuals could be tested by molecular genetic means. In 5 individuals of 3 generations, the mutation could be classified as c.1697_1698delTG. This novel germline mutation creates a premature stop codon leading to a loss of 510 amino acids of the protein. The detection of CaSR gene mutations is suitable to differentiate states of hypercalcemia and may help to avoid invasive procedures such as parathyroidectomies.

Authors with CRIS profile

Torsten Kuwert Lehrstuhl für Klinische Nuklearmedizin

Involved external institutions

Radiologisch-Nuklearmedizinisches Zentrum DE Germany (DE)

How to cite

APA:

Cordes, M., Kuwert, T., Haag, C., & Raue, F. (2017). A Novel Mutation of the Calcium Sensing Receptor Gene in a Franconian Kindred: Heterozygous Mutation c.1697_1698delTG Exon 6. Hormone and Metabolic Research, 49(2), 142-146. https://dx.doi.org/10.1055/s-0042-120415

MLA:

Cordes, M., et al. "A Novel Mutation of the Calcium Sensing Receptor Gene in a Franconian Kindred: Heterozygous Mutation c.1697_1698delTG Exon 6." Hormone and Metabolic Research 49.2 (2017): 142-146.

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