[Albright hereditary osteodystrophy: identification of a novel mutation in a family].

Abstract

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

• Authors: M Bastida Eizaguirre, R Iturbe Ortiz De Urbina, M Arto Urzainqui, R Ezquerra Larreina, J Escalada San Martín
• Journal: Anales espanoles de pediatria (An Esp Pediatr) Vol. 54 Issue 6 Pg. 598-600 (Jun 2001) ISSN: 0302-4342 [Print] Spain
• Vernacular Title: Osteodistrofia hereditaria de Albright. Identificación de una mutación original en una familia.
• PMID: 11412411 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• GTP-Binding Protein alpha Subunits, Gs

Topics

• Child, Preschool
• Fibrous Dysplasia, Polyostotic (genetics)
• GTP-Binding Protein alpha Subunits, Gs (genetics)
• Humans
• Male
• Mutation