Abstract

Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil

Author(s): M.T.M. Viveiros, M.D.C. Santos, J.M. Dos Santos, D.M. Viveiros, M.R.M. Cavalcante, A.J.M. Caldas and M.M.G. Pimentel

The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intellectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non-isotopic polymerase chain reaction amplification and DNA sequencing using an ABI Prism 3130 automated sequencer. Two individuals (0.84%) were positive for FMR1 mutations. One had a mutation due to expansion of the CGG repeat beyond normal levels and the other had a deletion in exon 1 of the FMR1 gene, which was confirmed by sequencing. Both probands were over 18 years old, which demonstrates the late diagnosis of the condition in these individuals and reinforces the need to implement effective programs for early diagnosis of FXS in the state of Maranhão. We found that FXS might be transmitted in the families of the two individuals bearing the mutation, and that it is important to understand the mutation dynamics to provide better counseling to the family members of these two individuals.

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