by Joep Geraedts

Received: 08 April 2019;  Published: 14 August 2019;  doi: 10.21926/obm.genet.1903089

Mitochondrial diseases represent the most common inborn errors of metabolism. The overwhelming majority of mitochondrial diseases (about 85 %) are caused by mutations of nuclear genes of oxidative phosphorylation. The remaining 15 % are caused by mtDNA mutations. The familial mtDNA mutations are exclusively inherited from the mother. Dysfunction of oocyte mitochondria is believed to result in poor developmental competence of oocytes in older infertility patients. Therefore, a group of patients underwent ooplasmic t [...]

by Ilaria Scarpelli  , Fabienne Marcelli  , Francesca Mattioli  and Jacqueline Schoumans

Received: 01 April 2019;  Published: 09 August 2019;  doi: 10.21926/obm.genet.1903088

With the advent of next generation sequencing (NGS), genomic profiling of tumors has gradually been introduced into the clinical setting and become a standard in cancer care. NGS allows easier, faster and cheaper sequencing and commercially available panels enable the detection of single or global genomic alterations, of germline and somatic origin. Genomic mutation profiling using NGS is today indispensable for disease evaluation and prediction of prognosis or responsiveness to cancer therapy. However, the chal [...]

by Leanna J. Standish  , Erin Sweet  , Shelly Hager  , Marcia Gaul  , Kelsey Afdem  and M. Robyn Andersen

Received: 27 February 2019;  Published: 26 July 2019;  doi: 10.21926/obm.genet.1903087

Patients’ lay theories about the cause of their cancer may influence patient behavior and adjustment, they have also been found to differ substantially from scientific evidence of cancer risk factors. This report describes beliefs about genetic causes of breast cancer, among 522 recently diagnosed breast cancer survivors participating in an observational study. Patients were asked to respond to an open-ended question about the cause of their cancer. Causes mentioned included family history, genetics, lifestyle an [...]

by Melania Formisano  and Giandomenico Corrado

Received: 11 June 2019;  Published: 23 July 2019;  doi: 10.21926/obm.genet.1903086

Background: DNA typing has revolutionised not only diagnostics and forensics but also how we can analyse food. A number of techniques have been successfully applied for DNA analysis of plant-derived food however, unlike forensics, no method has become universally employed. Methods: A keyword-based search was performed using the ISI-Web of Science database to look for research articles on DNA testing in agri-food chain. After screening and eligibility check, the systematic review was performed focusing on the techni [...]

by Hanane Merhmi  , Maria Zerkaoui  , Abdelhafid Natiq  , Aziza Sbiti  , Thonas Liehr  and Abdelaziz Sefiani

Received: 25 July 2018;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903085

Small supernumerary marker chromosomes (sSMCs), a major problem in clinical cytogenetics, are too small to be characterized for their chromosomal origin by cytogenetic banding techniques. Most sSMCs have not yet been correlated with a specific clinical syndrome, and genotype-phenotype correlation in sSMC-patients is still in major parts under development. In this paper we report two new Moroccan cases with a polymalformative syndrome, in which we identified similar but not identical sSMCs derived from chromosome 14 [...]

by Georgia Kakourou  , Thalia Mamas  , Christina Vrettou  and Jan Traeger-Synodinos

Received: 03 June 2019;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903084

Preimplantation Genetic Testing for HLA-matching (PGT-HLA) has been one of the most controversial PGT applications, first reported in 2001. The procedure aims to identify an embryo that is not only healthy but also HLA-matched with a sibling in the family in need of haematopoietic stem cell transplantation (HSCT), considering that sibling HSCT stands the highest chance of success in comparison to alternative approaches. HLA-typing can be performed with or without PGT-M for the exclusion of a single-gene disorder. T [...]

by Luis Delaye

Received: 05 May 2019;  Published: 11 July 2019;  doi: 10.21926/obm.genet.1903083

Background: Phylogenetic analyses shows that Pneumocystis species have coevolved with their mammalian hosts for millions of years. As a result, infection by Pneumocystis is species specific (i.e. a given Pneumocystis species can infect only a single species of host). This specificity suggests the existence of a Red-Queen dynamic between Pneumocystis and its host. Evidence of this dynamic is provided by the molecular diversity and the elevated rate of non-synonymous versus synonymous (dN/dS) codon substitutions amon [...]

by Theresa Mayo  , Barbara Schuster  , Anna Ellmann  , Manfred Schmidt  , Rainer Fietkau  and Luitpold V. Distel

Received: 27 July 2018;  Published: 26 June 2019;  doi: 10.21926/obm.genet.1902082

Background: It is known that radiosensitivity is very individual. This can influence the tumor response and side effects in normal tissue after radiotherapy of cancer. Therefore we analyzed the sensitivity of a lung cancer cohort to see if they display a similar radiosensitivity distribution if compared to a healthy individuals and a rectal cancer patients cohort. Methods: Blood samples of 282 individuals were irradiated ex vivo and chromosomes # 1, 2 and 4 were stained by the 3-color fluorescence in situ hybridiza [...]

by Abdulsamad Wafa  , Manar As’sad  , Thomas Liehr  , Adnan Ikhtiar  and Walid AL -ACHKAR

Received: 14 August 2018;  Published: 20 June 2019;  doi: 10.21926/obm.genet.1902081

(1) Background: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy of thymocytes with multiple genetic abnormalities, accounting for 15% and 25% of newly diagnosed cases of ALL in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males. Cytogenetically detectable structural or numerical chromosomal abnormalities are detected in ~50% of ALL cases. Such aberrations have a prognostic significance. High hyperdiploidy (51–65 chromosomes, HeH) is an established geneti [...]

by Laurence Pougnet  , Gilles Nevez  and Solène Le Gal

Received: 17 December 2018;  Published: 22 May 2019;  doi: 10.21926/obm.genet.1902080

Pneumocystis pneumonia (PCP) is still the most frequent AIDS-defining disease in developed countries and also concerns patients with other immunodeficiencies not associated with HIV. Experimental studies on rodent models carried out in the early eighties have showed that Pneumocystis sp. can be transmitted by the airborne route. Unfortunately, this mode of acquisition and transmission has long been ignored by physicians, specifically because PCP in immunosuppressed patients was considered to result from reactivatio [...]