Abstract
Down’s syndrome (DS) is the most frequent genetic cause of intellectual disability and is a chromosomal abnormality of chromosome 21 trisomy. The pericentrin gene (PCNT) has sequenced in 21q22.3 inside of the minimal critical region for Down’s syndrome. Alterations of PCNT gene are associated with dwarfism, cardiomyopathy and other pathologies. In this study, we have evaluated the possible differential expression of PCNT mRNA, by qRT-PCR, in peripheral blood leukocytes of DS subjects compared with the normal population. In the present case–control study, PCNT gene expression was increased by 72.72 % in 16 out 22 DS samples compared with normal subjects. Our data suggest that changes in the expression levels of PCNT in DS subjects may be involved into the molecular mechanism of Down’s syndrome.
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Salemi, M., Barone, C., Romano, C. et al. Pericentrin expression in Down’s syndrome. Neurol Sci 34, 2023–2025 (2013). https://doi.org/10.1007/s10072-013-1529-z
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DOI: https://doi.org/10.1007/s10072-013-1529-z