Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental disease

Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (<1 MB) affecting almost exclusively EBF3 are not commonlyreported. We performed array comparative genomic hybridization (aCGH) (Agilent 180K) and quantitative PCR analysis in a female patient with intellectual disability. A clinical comparison between our patient and overlapping cases reported in the literature was also made. The patient carries a de novo 600 Kb deletion at 10q26.3 affecting the MGMT, EBF3, and GLRX genes. The patient has severe intellectual disability, language impairment, conductive hearing loss, hypotonia, vision alterations, triangular face, short stature, and behavior problems. This presentation overlaps that reported for patients carrying EBF3 heterozygous point mutations, as well as literature reports of patients carrying large 10qter deletions. Our results and the literature review suggest that EBF3 haploinsufficiency is a key contributor to the common aspects of the phenotype presented by patients bearing point mutations and indels in this gene, given that deletions affecting the entire gene (alone or in addition to other genes) are causative of a similar syndrome, including intellectual disability (ID) with associated neurological symptoms and particular facial dysmorphisms.FCT—Fundação para a Ciência e a Tecnologia within the projects and scholarships (PIC/IC/83026/2007, PIC/IC/83013/2007, SFRH/BD/90167/2012). This article has been developed under the scope of the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnershi p Agreement, through the European Regional Development Fund (FEDER).info:eu-repo/semantics/publishedVersio

Caratterizzazione funzionale di sorgenti plasma di non equilibrio a pressione atmosferica per l’eradicazione di biofilm batterici e l’inattivazione di spore.

Durante la mia attività di tesi mi sono focalizzata sulla caratterizzazione funzionale di una sorgente plasma surface Dielectric Barrier Discharge (sDBD) impiegata per l’inattivazione di spore batteriche di Geobacillus stearothermophilus, e per l’eradicazione di biofilm batterici di Staphylococcus aureus e Pseudomonas aeruginosa. Durante la prima attività è stata compiuta la caratterizzazione elettrica della sorgente sDBD e sono state condotte analisi di temperatura all’interno del volume di trattamento della sorgente. In seguito sono stati eseguiti test biologici per dimostrare l’efficacia del plasma nell’inattivazione di spore. I risultati ottenuti dimostrano come aumentando la potenza impiegata per generare la scarica di plasma aumenta anche il potere sterilizzante della sorgente e come il valore massimo di temperatura raggiunto sia rimasto al di sotto del valore di soglia. Nella seconda fase i biofilm di S. aureus e P. aeruginosa sono stati trattati tramite sorgente sDBD e l’efficacia del trattamento è stata valutata calcolando la Log Reduction. In seguito la morfologia dei biofilm è stata analizzata tramite il microscopio a scansione elettronica (SEM). I risultati mostrano come il trattamento di biofilm con sorgente plasma sDBD sia efficace sia per ceppi batterici gram positivi sia gram negativi. Le immagini al SEM hanno confermato l’effetto battericida dal plasma

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8

A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1 → 12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using the chromosome specific probe y-19-1D (D85131), which maps to 8p21. Assay of cathepsin B, which has been localised to 8p22, did not differ from controls with normal chromosomal constitution. DNA studies using the Defensin 1 gene probe, which maps to 8p23, showed a previously undetected deletion of that segment. We propose that the inverted tandem duplication/deletion arose as a single U-type exchange within an inversion loop

Clinical and Cytogenetic Findings in Seven Cases of Inverted Duplication of 8p with Evidence of a Telomeric Deletion using Fluorescence in Situ Hybridization

We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2-p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia (66%), orthopedic abnormalities (58%), scoliosis/kyphosis (40%), and congenital heart defect (26%). A telomeric deletion of region 8p23.3-pter was confirmed in 3 of our cases studied using fluorescent in situ hybridization with a telomeric probe for 8p. Thus, these karyotypes are inv dup del(8) (qterp23.1::p23.1p11.2:). Our findings suggest that most cases of inv dup(8p) probably have a telomeric deletion