Se estudian las mutaciones en el gen GNAS1, en un paciente con alteraciones somáticas propias de osteodistrofia hereditaria de Albright y resistencia en los efectores hísticos a la hormona paratiroidea (seudohipoparatiroidismo Ia), y en su madre solamente con alteraciones somáticas y braquimetacarpia (seudoseudohipoparatiroidismo). Se identifica una mutación designada 794G > A en el exón 10 del gen GNAS1, en el ADN del paciente y de su madre. Esta mutación original en el exón 10 del gen GNAS1, es patogénica y confirma el diagnóstico de osteodistrofia hereditaria de Albright

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.794G > A (R 265 H) in exon 10 of GNAS1 was identified in DNA from the patient and his mother. This novel mutation in exon 10 of GNAS1 c.794 G > A, is pathogenic and confirms a diagnosis of Albright hereditary osteodystrophy