Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS

Ann Clin Lab Sci. 2015 Spring;45(3):344-7.

Abstract

Children with Albright's hereditary osteodystrophy (AHO) suffering from spinal cord compression are rarely reported worldwide. The association of compressive myelopathy with AHO is not still well known. AHO is a rare heterogeneous group of inherited disorders and results from the GNAS mutation. AHO manifests in two different phenotypes, pseudohypoparathyroidism type Ia (PHP-Ia) and pseudopsedohypoparthyroidim (PPHP), which may happen in the same family members. We present the case of a 15-year-old boy with AHO features, who was later diagnosed with PHP-Ia. He suffered from cervical myelopathy with paraparesis due to spinal stenosis. His mother with AHO phenotype was diagnosed with PPHP without spinal stenosis. Genetic analysis revealed a novel heterozygous nonsense mutation within exon 1 of GNAS(c.49A>T; p.Lys17*) in both of them. This is the first clinically, biochemically, and genetically identified child case of spinal stenosis and paraparesis associated with PHP-Ia, having a novel GNAS mutation in Korea.

Keywords: Albright’s hereditary osteodystrophy; Children; G proteins; Pseudohypoparathyroidism Type Ia; Pseudopseudo-hypoparathyroidism; Spinal stenosis; paraparesis.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromogranins
  • Codon, Nonsense / genetics*
  • DNA Mutational Analysis
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Paraparesis / complications*
  • Pseudohypoparathyroidism / complications*
  • Republic of Korea
  • Spinal Stenosis / complications*
  • Wheelchairs

Substances

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