Osteodistrofia hereditaria de Albright. Identificación de una mutación original en una familia

  1. M. Bastida Eizaguirre
  2. R. Iturbe Ortiz de Urbina
  3. M.J. Arto Urzainqui
  4. R. Ezquerra Larreina
  5. J. Escalada San Martín
Revista:
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

Any de publicació: 2001

Volum: 54

Número: 6

Pàgines: 598-600

Tipus: Article

DOI: 10.1016/S1695-4033(01)77602-3 DIALNET GOOGLE SCHOLAR lock_openAccés obert editor

Objectius de Desenvolupament Sostenible

Resum

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

Fuente de los datos: Dialnet