Albright's Hereditary Osteodystrophy (Pseudohypoparathyroidism type Ia): Clinical case with a novel mutation of GNAS1

Livia Garavelli, S. Pedori, C. Zanacca, G. Caselli, A. Loiodice, G. Mantovani, A. Ammenti, Raffaele Virdis, G. Banchini

Research output: Contribution to journalArticlepeer-review

Abstract

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5 th) and absence of the 4th knuckle (brachydactyly type E) [1]. Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS1, resulting in the non-sense mutation of exon 13 (CAG→TAG, codon 384). This result expands the spectrum of GNASl mutations associated with this disorder.

Original languageEnglish
JournalActa Biomedica
Volume76
Issue number1
Publication statusPublished - 2005

Keywords

  • Albright's Hereditary Osteodystrophy
  • GNAS1
  • Nonsense mutation of exon 13 (CAG→TAG, codon 384)
  • PPHP
  • Pseudohypoparathyroidism
  • Type IA

ASJC Scopus subject areas

  • Medicine(all)

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