PMID: 9181015Mar 1, 1997Paper

Fragile X syndrome is still unrecognized: efficacy of molecular diagnosis in mentally retarded probands

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
M CosséeJ L Mandel

Abstract

The fragile X mental retardation syndrome is the most common cause of inherited mental retardation. Identification of the unstable mutation responsible for the disease has allowed the design of a fully reliable molecular test for the diagnosis of the disease and for genetic counselling (identification of clinically normal carriers and prenatal diagnosis). We started in July 1991 to search for the mutation in mentally retarded probands, with no known cause for their phenotype. We present the results of a 42-month experience. One thousand and one hundred fourty-nine probands were analysed. In case of a positive diagnosis, an extension of the molecular study to relatives was proposed. DNA samples were studied by Southern blot following EcoRI or EcoRI + EagI digestion. Clinical data were collected from referring clinicians. Seventy-three carriers of a full mutation were identified, belonging to 52 families. The mean age of the fragile X probands was 16 +/- 14 years, which is very surprising for a disease that causes significant manifestations by the age of 2 to 3 years. This indicates an insufficient knowledge about this disease in France. Most of the demands for the test were from clinical geneticists. This diagnosis is of major i...Continue Reading

Citations

Aug 25, 2004·American Journal of Medical Genetics. Part a·Valérie BiancalanaJean-Louis Mandel

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