Cytogenetic and Immunohistochemical Characterization of Fragile X Syndrome in a Kuwaiti Family: Rapid Antibody Test for the Diagnosis of Mental Retardation Patients

Abstract

Objectives: To study a Kuwaiti family with fragile X mental retardation syndrome and present a rapid, noninvasive antibody test to be used for fragile X syndrome diagnosis on all mentally retarded patients in Kuwait. Methods: For cytogenetic analysis, the fragile site was induced by culturing blood lymphocytes in a medium containing a low concentration of folate (M199) or by adding 0.1 µM of fluorodeoxyuridine to the culture media. For the immunohistochemical test on blood smears, monoclonal antibodies against fragile X mental retardation (FMR1) gene product were used. The test is based on the presence of the protein in lymphocytes from normal individuals and its absence in lymphocytes from fragile X patients. Results: A Kuwaiti family with fragile X syndrome in 4 affected males is described. The immunohistochemical study with the monoclonal antibodies against FMR protein gave conclusive results on the same day for the affected males. Conclusion: To our knowledge, this is the first report describing a large Kuwaiti family with the fragile X syndrome. These data suggest that the immunohistochemical test used is an ideal method for the diagnosis of fragile X syndrome in mentally retarded patients in Kuwait.

Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka

“…Screening and diagnostic methods used worldwide, individually or in combination for detecting CGG repeat expansions include cytogenetic analysis, polymerase chain reaction (PCR), methylation specific PCR (MS-PCR), 3’ and 5’ direct triplet-primed PCR (dTP-PCR) followed by melting curve analysis (MCA), capillary electrophoresis (CE) and Southern hybridization [ 19 – 25 ]. Each method has its inherent advantages and disadvantages.…”