Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To detect potential variants of MECP2 gene in three pedigrees affected with Rett syndrome (RTT).@*METHODS@#All exons and their flanking regions of the MECP2 gene were subjected to Sanger sequencing and multiplex ligation-dependent probe amplification assay.@*RESULTS@#The probands of pedigrees 1 and 2 have respectively carried a c.965C>G and a c.1157_1197del41 variant of the MECP2 gene, while the proband of pedigree 3 carried a heterozygous deletional variant in exon 4 of the MECP2 gene.@*CONCLUSION@#Variants of the MECP2 gene probably underlay the RTT in the three pedigrees. Above finding has enriched the spectrum of MECP2 gene variants, and provided a guidance for the patients upon preimplantation genetic testing and prenatal diagnosis.