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Rare disease
Case report
Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene
  1. Vânia Gomes,
  2. Catarina Silvestre,
  3. Florbela Ferreira and
  4. Maria João Guerreiro Martins Bugalho
  1. Endocrinology, Diabetes and Metabolism Department, Hospital de Santa Maria, Lisboa, Portugal
  1. Correspondence to Professor Maria João Guerreiro Martins Bugalho; maria.bugalho{at}chln.min-saude.pt

Abstract

Autosomal dominant hypocalcaemia is a rare aetiology of hypocalcaemia, caused by gain-of-function mutations of the calcium-sensing receptor (CASR) gene. We present two cases of two asymptomatic women (50-year-old—case 1 and 25-year-old—case 2), referred to our endocrinology department for investigation of hypocalcaemia, hyperphosphatemia and inappropriately low parathormone. Both patients had relatives with the same laboratorial findings. At diagnosis, both patients presented basal ganglia calcifications. Genetic analysis was performed, identifying two novel heterozygous CASR variants: c.2269G>A (p.Glu757Lys) and c.2086C>G (p.Leu696Val), respectively, for case 1 and case 2. Affected individuals started oral calcium and vitamin D analogues, aiming to a low–normal calcium level. They remain under observation and are asymptomatic.

  • calcium and bone
  • genetic screening / counselling
  • medical management

https://doi.org/10.1136/bcr-2020-234391

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    Footnotes

    • Contributors VG collected the data, wrote and prepared the manuscript and is the endocrinologist in charge of patient 1. CS is the endocrinologist in charge of patient 2 and reviewed the manuscript for important intellectual content. FF was involved in the patient 1 care and reviewed the manuscript for important intellectual content. MJGMB reviewed the manuscript for important intellectual content.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.