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Vol. 54. Núm. 6.
Páginas 598-600 (Junio 2001)
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Vol. 54. Núm. 6.
Páginas 598-600 (Junio 2001)
Acceso a texto completo
Osteodistrofia hereditaria de Albright. Identificación de una mutación original en una familia
Albright hereditary osteodystrophy: Identification of a novel mutation in a family
Visitas
17668
M. Bastida Eizaguirrea,
Autor para correspondencia
mbastida@hsan.osakidetza.net

Correspondencia: Servicio de Pediatría. Hospital Santiago Apóstol. Olaguibel, 29. 01004 Vitoria-Gasteiz.
, R. Iturbe Ortiz de Urbinaa, M.J. Arto Urzainquia, R. Ezquerra Larreinab, J. Escalada San Martínb
a Servicios de Pediatría. Hospital Santiago Apóstol. Vitoria.
b Servicios de Endocrinología. Hospital Santiago Apóstol. Vitoria.
Este artículo ha recibido
Información del artículo

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

Palabras clave:
Seudohipoparatiroidismo
Seudoseudohipoparatiroidismo

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

Key words:
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
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