Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright
Background: McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of Gas protein with a mosaic distribution. Aim: To describe the clinical presentation and to investigat...
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| Lenguaje: | Spanish / Castilian |
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Sociedad Médica de Santiago
2001
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oai:scielo:S0034-988720010012000012005-11-22Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-AlbrightRomán R,RossanaJohnson P,M CeciliaCodner D,EthelCattani O,AndreínaGarcía B,HernánMericq G,VerónicaBoric S,AngélicaMuñoz O,MónicaSchneider S,RuthCassorla G,Fernando Aminoacid substitution Fibrous dysplasia polyostotic McCune-Albright Syndrome Mutation, misseuse Background: McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of Gas protein with a mosaic distribution. Aim: To describe the clinical presentation and to investigate the presence of the Arg by his substitution (R201H) in 14 girls with MAS. Patients and methods: We performed a clinical analysis of the patients and specific allele PCR in DNA obtained from leukocytes. Results: Twelve of 14 patients presented with precocious puberty, one with cyclical vaginal bleeding and one with pathological bone fractures. Eight girls had polyostotic fibrous dysplasia, one had hyperthyroidism, four had pathological fractures, ten had ovarian cysts, six had breast hyperpigmentation and ten had "cafe au lait" skin lesions. We detected the R2O1H mutation in 10 of 14 patients. We found no difference in the severity of symptoms or in the age of presentation between the patients with and without the mutation. Conclusions: The R201H mutation can be detected in white blood cells, in approximately 70% of cases. Patients exhibit wide clinical variability with the same molecular defect. This suggests that tissues have different proportions of mutant cells (Rev Méd Chile 2001; 129: 1365-72)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.129 n.12 20012001-12-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001001200001es10.4067/S0034-98872001001200001 |
| institution |
Scielo Chile |
| collection |
Scielo Chile |
| language |
Spanish / Castilian |
| topic |
Aminoacid substitution Fibrous dysplasia polyostotic McCune-Albright Syndrome Mutation, misseuse |
| spellingShingle |
Aminoacid substitution Fibrous dysplasia polyostotic McCune-Albright Syndrome Mutation, misseuse Román R,Rossana Johnson P,M Cecilia Codner D,Ethel Cattani O,Andreína García B,Hernán Mericq G,Verónica Boric S,Angélica Muñoz O,Mónica Schneider S,Ruth Cassorla G,Fernando Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright |
| description |
Background: McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of Gas protein with a mosaic distribution. Aim: To describe the clinical presentation and to investigate the presence of the Arg by his substitution (R201H) in 14 girls with MAS. Patients and methods: We performed a clinical analysis of the patients and specific allele PCR in DNA obtained from leukocytes. Results: Twelve of 14 patients presented with precocious puberty, one with cyclical vaginal bleeding and one with pathological bone fractures. Eight girls had polyostotic fibrous dysplasia, one had hyperthyroidism, four had pathological fractures, ten had ovarian cysts, six had breast hyperpigmentation and ten had "cafe au lait" skin lesions. We detected the R2O1H mutation in 10 of 14 patients. We found no difference in the severity of symptoms or in the age of presentation between the patients with and without the mutation. Conclusions: The R201H mutation can be detected in white blood cells, in approximately 70% of cases. Patients exhibit wide clinical variability with the same molecular defect. This suggests that tissues have different proportions of mutant cells (Rev Méd Chile 2001; 129: 1365-72) |
| author |
Román R,Rossana Johnson P,M Cecilia Codner D,Ethel Cattani O,Andreína García B,Hernán Mericq G,Verónica Boric S,Angélica Muñoz O,Mónica Schneider S,Ruth Cassorla G,Fernando |
| author_facet |
Román R,Rossana Johnson P,M Cecilia Codner D,Ethel Cattani O,Andreína García B,Hernán Mericq G,Verónica Boric S,Angélica Muñoz O,Mónica Schneider S,Ruth Cassorla G,Fernando |
| author_sort |
Román R,Rossana |
| title |
Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright |
| title_short |
Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright |
| title_full |
Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright |
| title_fullStr |
Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright |
| title_full_unstemmed |
Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright |
| title_sort |
estudio clínico-molecular de pacientes chilenas con síndrome de mccune-albright |
| publisher |
Sociedad Médica de Santiago |
| publishDate |
2001 |
| url |
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001001200001 |
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