TY - JOUR
T1 - Albright's Hereditary Osteodystrophy (Pseudohypoparathyroidism type Ia)
T2 - Clinical case with a novel mutation of GNAS1
AU - Garavelli, Livia
AU - Pedori, S.
AU - Zanacca, C.
AU - Caselli, G.
AU - Loiodice, A.
AU - Mantovani, G.
AU - Ammenti, A.
AU - Virdis, Raffaele
AU - Banchini, G.
PY - 2005
Y1 - 2005
N2 - 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.
AB - 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.
KW - Albright's Hereditary Osteodystrophy
KW - GNAS1
KW - Nonsense mutation of exon 13 (CAG→TAG, codon 384)
KW - PPHP
KW - Pseudohypoparathyroidism
KW - Type IA
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M3 - Article
C2 - 16116826
AN - SCOPUS:22244435237
VL - 76
JO - Acta Biomedica de l'Ateneo Parmense
JF - Acta Biomedica de l'Ateneo Parmense
SN - 0392-4203
IS - 1
ER -