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

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4^th and 5 ^th) and absence of the 4^th 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.