1 research outputs found
Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)
Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene
encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical
RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were
developed as a rapid, convenient and accurate method to detect large heterozygous deletions
and duplications. A blinded analysis was performed for 65 RTT cases from Portugal by RDPCR
in the coding exons 2-4 of the MECP2 gene. Neither the patients with point mutations
nor the non-classical RTT patients without point mutation had a deletion or duplication.
One of remaining eight female patients with classical RTT without point mutation had a
heterozygous deletion. This is the first report of a deletion spanning the entire MECP2 gene.
The deletion was confirmed by southern blotting analysis and the deletion junction was
localized 37kb upstream from exon 1 and 18kb downstream from exon 4. No duplications
were detected. Our results suggest that RD-PCR is an accurate and convenient molecular
diagnostic method