A small de novo 16q24.1 duplication in a woman with severe clinical features

Abstract

We report here a de novo 16q24.1 interstitial duplication in a woman with a severe phenotype consistent with mental retardation, spastic paraplegia, severe epilepsy, a narrow and arched palate, malar hypoplasia, little subcutaneous fat and arachnodactyly. Although conventional karyotyping was found to be normal, array-CGH detected a small duplication on chromosome 16. Using QFM-PCR, we characterised its proximal and distal breakpoints. The duplication, which is approximately 250 kb, encompasses seven genes (KIAA0182, GINS2, c16orf74, COX4NB, COX4I1, MIR1910 and IRF8). Several reports have previously described large 16q duplications, and some of these overlap with our region in 16q24.1. Due to the variability of the described phenotypes, the characterisation of small 16q duplications may help to determine critical regions and the genes they contain that are associated with the components of complex phenotypes.

Characterization of the cardiogenesis in embryos of a Gse-1tm-1a(EUCOMM)Wtsi mouse line

“…Furthermore, Gse-1 was recognized as a target of miR-489-5p, which was proven to be diminished in breast cancer cells (Chai et al 2016). A case report, which included Gse-1, was published in the year 2013 that found a small de novo duplication (16p24.1) in one patient with a striking clinical phenotype with spastic paraplegia, severe epilepsy, mental retardation, arachnodactyly, malar hypoplasia and an arched palate (Quéméner-Redon et al 2013). In the year 2012, data were published that emphazised the association between the risk of colorectal cancer and variant alleles of KIAA0182, which are part of a single-nucleotide polymorphisms within 3'-untranslated genetic areas (Landi et al 2012).…”