The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review

Ann Clin Lab Sci. 2022 May;52(3):494-498.

Abstract

Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ADH type 2 (ADH2) is caused by a heterozygous gain-of-function mutation in GNA11 that encodes the subunit of G11, the principal G protein that transduces calcium-sensing receptor signaling in the parathyroid. Clinical features related to hypocalcemia in ADH2 range from asymptomatic to tetany and seizures. We report the clinical and molecular analysis of an infant with ADH2. Exome sequencing identified a de novo heterozygous missense variant, c. G548C (p. Arg183Pro) in GNA11. This is the youngest Korean case to be diagnosed with ADH 2. In addition, we summarized the literature related to eight mutations in GNA11 from 10 families.

Keywords: Autosomal dominant; Calcium; GNA11; Hypocalcemia; hypoparathyroidism.

Publication types

  • Case Reports
  • Review

MeSH terms

  • GTP-Binding Protein alpha Subunits* / genetics
  • GTP-Binding Protein alpha Subunits* / metabolism
  • GTP-Binding Proteins / metabolism
  • Humans
  • Hypercalciuria / genetics
  • Hypercalciuria / metabolism
  • Hypocalcemia* / diagnosis
  • Hypocalcemia* / genetics
  • Hypocalcemia* / metabolism
  • Hypoparathyroidism* / congenital
  • Hypoparathyroidism* / genetics
  • Hypoparathyroidism* / metabolism
  • Infant

Substances

  • GNA11 protein, human
  • GTP-Binding Protein alpha Subunits
  • GTP-Binding Proteins

Supplementary concepts

  • Hypercalciuric Hypocalcemia, Familial