Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright

Rossana Rom; M Cecilia Johnson P; Ethel Codner D.; Andre Cattani O; Hern Garc; Ver Mericq G; Ang Boric S; M Mu; Ruth Schneider S.; Fernando Cassorla G

Abstract

"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 M

Más información

Título según SCIELO: Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright
Título de la Revista: REVISTA MEDICA DE CHILE
Volumen: 129
Número: 12
Editorial: SOC MEDICA SANTIAGO
Fecha de publicación: 2001
Página de inicio: 1365
Página final: 1372
Idioma: es
DOI:

10.4067/S0034-98872001001200001

Notas: SCIELO