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) . 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.
|Publication status||Published - 2005|
- Albright's Hereditary Osteodystrophy
- Nonsense mutation of exon 13 (CAG→TAG, codon 384)
- Type IA
ASJC Scopus subject areas