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
Zeitschrift:
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

Datum der Publikation: 2001

Ausgabe: 54

Nummer: 6

Seiten: 598-600

Art: Artikel

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

Ziele für nachhaltige Entwicklung

Zusammenfassung

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