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Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review

Yingying Wu1,2, Chao Zhang1, Xiaojun Huang3

  • 1Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, China.

The Journal of International Medical Research
|July 12, 2022
PubMed

Insights

Autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic disorder, is caused by calcium-sensing receptor gene mutations. This case highlights a novel variant presenting with severe hypocalcemia and seizures.

Area of Science:

  • Endocrinology
  • Genetics
  • Nephrology

Background:

  • Autosomal dominant hypocalcemia type 1 (ADH1) is a rare inherited disorder.
  • It is characterized by hypocalcemia, low parathyroid hormone (PTH), and high urinary calcium.
  • ADH1 results from gain-of-function mutations in the calcium-sensing receptor gene (CASR).

Purpose of the Study:

  • To describe a case of ADH1 presenting with recurrent seizures due to hypocalcemia.
  • To identify and analyze a novel CASR variant in this patient.
  • To review the clinical and genetic spectrum of ADH1.

Main Methods:

  • Clinical case presentation and analysis.
  • Genetic sequencing to identify CASR variants.
  • Literature review of ADH1 cases.

Main Results:

  • A patient presented with recurrent seizures secondary to severe hypocalcemia.
  • A novel gain-of-function mutation in the CASR gene was identified.
  • The patient's phenotype was consistent with ADH1, demonstrating variable clinical severity.

Conclusions:

  • Gain-of-function CASR mutations cause ADH1, affecting PTH secretion and renal calcium handling.
  • Novel CASR variants can lead to severe hypocalcemia and neurological symptoms like seizures.
  • Comprehensive analysis of clinical features and genetic spectrum is crucial for understanding ADH1.

Keywords:
Autosomal dominant hypocalcemia type 1CASRcalcificationhyperphospheremiahypoparathyroidismseizure

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