Korean J Pediatr.  2014 May;57(5):240-244. 10.3345/kjp.2014.57.5.240.

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia

Affiliations
  • 1Department of Pediatrics, Hallym University College of Medicine, Chunchon, Korea. hongjlee@hallym.ac.kr
  • 2Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Abstract

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 (p.Gln213*). To our knowledge, this is a novel mutation in GNAS.

Keyword

Pseudohypoparathyroidism; Pseudohypoparathyroidism Type 1a; GNAS gene; Albright's hereditary osteodystrophy

MeSH Terms

Amino Acid Substitution
Basal Ganglia
Brachydactyly
Child
Codon
Codon, Nonsense
Codon, Terminator
Exons
Humans
Hyperphosphatemia
Hypocalcemia
Intellectual Disability
Intelligence
Male
Obesity
Osteoma
Parathyroid Hormone
Pseudohypoparathyroidism*
Siblings
Codon
Codon, Nonsense
Codon, Terminator
Parathyroid Hormone
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