[Albright hereditary osteodystrophy: identification of a novel mutation in a family].
Studies to detect mutations in the GNAS1 gene were performed in a male patient with features of Albright hereditary osteodystrophy and resistance of target tissues to parathyroid hormone (Pseudohypoparathyroidism Ia). The same investigations were carried out in the patient's mother who showed somatic features of Albright's hereditary osteodystrophy and brachymetacarpia without resistance to parathyroid hormone (Pseudopseudohypoparathyroidism). A point mutation designated c.794GA (R265H) in exon 10 of GNAS1 was identified in DNA from the patient and his mother. This novel mutation in exon 10 of GNA
Bastida Eizaguirre
M
M
Servicios de Pediatría Endocrinología. Hospital Santiago Apóstol. Vitoria. mbastida@hsan.osakidetza.net
Iturbe Ortiz De Urbina
R
R
Arto Urzainqui
M
M
Ezquerra Larreina
R
R
Escalada San Martín
J
J
D002675:Child, Preschool; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation
D019205:GTP-Binding Protein alpha Subunits, Gs