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Título :	Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unknown cause in Mexico
Creador:	González del Angel, Ariadna
Nivel de acceso:	Open access
Palabras clave :	ADN - sangre ADN - genética Proteína del Retraso Mental del Síndrome del Cromosoma X Frágil - genética Síndrome del Cromosoma X Frágil - diagnóstico Síndrome del Cromosoma X Frágil - epidemiología Síndrome del Cromosoma X Frágil - genética Discapacidad Intelectual -diagnóstico Discapacidad Intelectual - epidemiología Discapacidad intelectual - genética Proteínas del Tejido Nervioso - genética 1 Proteínas de Unión al ARN - genética 1 Caracteres Sexuales 1 Preescolar DNA - blood DNA - genetics Fragile X Mental Retardation Protein - genetics Fragile X Syndrome - diagnosis - Child, Preschool; Fragile X Syndrome - epidemiology -Child, Preschool; Fragile Syndrome - genetics Intellectual Disability - diagnosis Intellectual Disability - epidemiology Intellectual Disability - genetics Nerve Tissue Proteins - genetics 1 RNA-Binding Proteins - genetics 1 Sex Characteristics 1 Child, Preschool síndrome X frágil FRAXE retraso mental Mexicano población fragile X syndrome FRAXE mental retardation Mexican population
Descripción :	The fragile X syndrome (Fra-X) is the most common cause of inherited mental retardation with X-linked semi-dominant inheritance. The prevalence of Fra-X in the Mexican population is unknown. The aim of this population screening study was to determine if Fra-X or FRAXE mutations are the cause of a number of cases of mental retardation in a sample of Mexican children with mental retardation of unknown cause (MRUC) and to stress the importance of performing molecular analysis of the FMR-1 gene in all patients with MRUC. We report here the direct analysis of CGG and GCC repeats within the FMR-1 and FMR-2 genes, respectively, in 62 unrelated patients with MRUC. Two male index cases had the CGG expansion, although they did not express the Xq27.3 fragile site cytogenetically. Fra-X diagnosis was highly suspected on a clinical basis in one of the patients, but not in the other. Both mothers were found to be premutation carriers. The molecular studies of FMR-1 showed that the proportion of MRUC patients with Fra-X is 3.2%. This frequency was not significantly different to that reported in most populations. As reported in other series, no patients with FRAXE were found in our sample. Our findings confirm that the molecular analysis of the FMR-1 gene is necessary in MRUC patients to achieve unequivocal diagnosis of fragile X syndrome, carrier premutation detection and for accurate genetic counseling.
Colaborador(es) u otros Autores:	Vidal S  Saldaña Y  del Castillo V  Angel Alcántara M  Macías M  Pedro Luna J  Orozco
Fecha de publicación :	2000
Tipo de publicación:	Artículo
Formato:	pdf
Identificador del Recurso :	10.1016/S0003-3995(00)00018-6
Fuente:	Ann Genet. 43(1):29-34
URI :	http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2610
Idioma:	eng
Aparece en las colecciones:	Artículos

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