A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia

Hong Kong Med J. 2014 Jun;20(3):258-60. doi: 10.12809/hkmj134025.

Abstract

Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type 1a pseudohypoparathyroidism display different features of Albright's hereditary osteodystrophy as well as multi-hormone resistance. We describe a Chinese woman and her son, who presented with different symptoms of pseudohypoparathyroidism and clinically manifested different degree of Albright's hereditary osteodystrophy. Genetic study detected a mutation [NM_000516.4(GNAS):c682C>T (p.Arg228Cys)] in the GNAS gene.

Keywords: Asian continental ancestry group; Hypocalcemia; Pseudohypoparathyroidism.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Chromogranins
  • Female
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Humans
  • Hypocalcemia / genetics*
  • Male
  • Mutation*
  • Pseudohypoparathyroidism / genetics*

Substances

  • Chromogranins
  • GNAS protein, human
  • GTP-Binding Protein alpha Subunits, Gs