Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryosin vitro.
Genet Med. 2014 May 8. doi: 10.1038/gim.2014.45. [Epub ahead of print]
Natesan S, et al.
The authors compared the accuracy of targeted haplotyping and direct mutation-detection strategies with the accuracy of genome-wide mapping of the parental origin of each chromosome, or karyomapping, by SNP array-based genotyping of the parents, a close relative of known disease status, and the embryo cells used for preimplantation genetic diagnosis following in vitro fertilization. They determined genome-wide karyomapping to be highly accurate and argued that it facilitates the analysis of the inheritance of almost any single-gene defect, or any combination of loci, at the single-cell level, greatly expanding the range of conditions for which preimplantation genetic diagnosis can be offered clinically without the need for customized test development.
Novel genetic aberrations in breast phyllodes tumours: comparison between prognostically distinct groups.
Breast Cancer Res Treat. 2014 May 16. [Epub ahead of print]
Tan W, et al.
The authors aimed to investigate genetic aberrations in phyllodes tumors stratified according to clinical behavior, to identify potential genes contributing to disease progression. Twenty phyllodes tumors were separated into prognostically distinct categories depending on whether they had recurred within the follow-up period. DNA extracted from formalin-fixed, paraffin-embedded materials was analyzed using the Affymetrix OncoScan FFPE Express platform, and the results were cross validated with Sanger sequencing, fluorescence in situ hybridization, and immunohistochemistry.
Towards the identification of a genetic basis for Landau-Kleffner syndrome.
Epilepsia. 2014 May 14. [Epub ahead of print]
Conroy J, et al.
The authors used a multifaceted approach to identify genetic risk factors for Landau-Kleffner syndrome, including array comparative genomic hybridization using an Agilent 180K array, whole genome methylation profiling using the Illumina 27K array, and exome sequencing. A variant was found in a single patient in the GRIN2A gene, but no single candidate gene was identified to cause LKS in the remaining cohort. However, a number of interesting additional candidate variants were identified including variants in RELN, BSN, EPHB2, and NID2.