Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein Gs
| Autor: | Penelope Feuillan, Antoinette Moran, Allen M. Spiegel, Judson J. Van Wyk, Lee S. Weinstein, Charlotte M. Boney, Ora H. Pescovitz, Nancy J. Charest, Maria J. Merino, Andrew Shenker |
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| Rok vydání: | 1993 |
| Předmět: |
Male
medicine.medical_specialty Pathology Adolescent Nonsense mutation Arginine Endocrine System Diseases Fibrous Dysplasia Polyostotic Polymerase Chain Reaction McCune–Albright syndrome Death Sudden GTP-Binding Proteins Risk Factors Internal medicine Cyclic AMP Humans Medicine Missense mutation Polyostotic fibrous dysplasia Pseudohypoparathyroidism Mosaicism business.industry Fibrous dysplasia Hepatobiliary disease Infant Newborn medicine.disease Osteochondrodysplasia Antisense Elements (Genetics) Endocrinology Mutation Pediatrics Perinatology and Child Health Female business |
| Zdroj: | The Journal of Pediatrics. 123:509-518 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/s0022-3476(05)80943-6 |
| Popis: | McCune-Albright syndrome (MCAS) is a sporadic disease classically including polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and other hyperfunctional endocrinopathies. An activating missense mutation in the gene for the alpha subunit of GS, the G protein that stimulates cyclic adenosine monophosphate formation, has been reported to be present in these patients. The mutation is found in variable abundance in different affected endocrine and nonendocrine tissues, consistent with the mosaic distribution of abnormal cells generated by a somatic cell mutation early in embryogenesis. We describe three patients with MCAS who had profound endocrine and nonendocrine disease and who died in childhood. Two of the patients were severely ill neonates whose complex symptoms did not immediately suggest MCAS. A mutation of residue Arg201 of GS alpha was found in affected tissues from all three children. A review of the literature and unpublished case histories emphasizes the existence of other patients with severe and unusual clinical manifestations. We conclude that the manifestations of MCAS are more extensive than is generally appreciated, and may include hepatobiliary disease, cardiac disease, other nonendocrine abnormalities, and sudden or premature death. |
| Databáze: | OpenAIRE |
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