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 [...]

by Boel De Paepe

Received: 28 February 2019;  Published: 16 May 2019;  doi: 10.21926/obm.genet.1902079

In order to successfully recover from damage, skeletal muscle tissue requires proper activation of a tightly orchestrated repair program. To this complex process of demolition and rebuilding, non-coding RNAs actively participate. In this review, the contribution of dysregulated non-coding RNA expression to disease-associated pathological changes is explored in the hereditary muscular dystrophies and the idiopathic inflammatory myopathies. Disturbances in spatiotemporal expression of non-coding RNAs appear key facto [...]

by Christine Demanche  , Jacques Guillot  and Magali Chabé

Received: 22 February 2019;  Published: 15 May 2019;  doi: 10.21926/obm.genet.1902078

At the end of the 20th century, the notion of a unique species in the genus Pneumocystis (i.e. Pneumocystis carinii) was challenged and our understanding of the natural history of pneumocystosis was drastically changed. It is now accepted that the Pneumocystis genus comprises multiple stenoxenic biological entities that are widely distributed in ecosystems, airborne transmitted and closely adapted to the mammalian species they colonize. This article provides an opportunity to review one of the atypical features of [...]

by Hagit Daum  , Simcha Yagel  and Mordechai Shohat

Received: 11 March 2019;  Published: 15 May 2019;  doi: 10.21926/obm.genet.1902077

Fetal exome sequencing is becoming a crucial modality for genetic investigation whenever fetal malformations are documented in the context of normal chromosomal microarray analysis (CMA). When ultrasound findings are non-specific, the robustness of exome sequencing may be the only way to achieve a molecular diagnosis during pregnancy. We describe a case of multiple non-specific fetal findings with the eventual diagnosis of fetal Kabuki syndrome by exome sequencing (due to a deleterious mutation in KMT2D). This cas [...]

by Yuri B. Yurov  , Svetlana G. Vorsanova  and Ivan Y. Iourov

Received: 06 February 2019;  Published: 30 April 2019;  doi: 10.21926/obm.genet.1902076

The human brain has been repeatedly shown to exhibit intercellular/somatic genomic variations at chromosomal level, which are involved in neuronal diversity in health and disease. Brain-specific chromosomal mosiacism (aneuploidy) and chromosome instability play a role in normal and pathological neurodevelopment, neurodegeneration and aging of the central nervous system. Regardless of achievements in somatic cell (single-cell) genomics, there is still no consensus on the amounts of chromosomally abnormal cells in th [...]

by Marcel Mannens

Received: 24 April 2019;  Published: 30 April 2019;  doi: 10.21926/obm.genet.1902075

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by Rita Payan-Carreira

Received: 30 December 2018;  Published: 29 April 2019;  doi: 10.21926/obm.genet.1902074

In a mammal, at the beginning of its development, the gonad is bipotential. The shift into a male or female pathway is coordinated by the sex chromosomal complement, which triggers a series of genetic pathways signaling the developmental pattern of the gonadal anlage. Being mutually exclusive, the differentiated gonad should be either a testis or an ovary. In females, the absence of SRY, a testis-determining gene, drives the signaling cascades controlling the ovarian differentiation. Albeit rare, disorders of the [...]

by Racha El-Hajj Ghaoui  , Dorothy Hung  and Bhavna Padhye

Received: 24 December 2018;  Published: 17 April 2019;  doi: 10.21926/obm.genet.1902073

Hypodiploidy has a low incidence in childhood acute lymphoblastic leukaemia (ALL). Patients are usually stratified into three subgroups, to allocate the correct treatment according to their ploidy level: high hypodiploidy (40-45 chromosomes), low hypodiploidy (33-39 chromosomes) and near haploidy (23-29 chromosomes). In this paper, a case is presented of near-haploid childhood ALL where fluorescence in situ hybridisation (FISH) provided an insight into the near-haploidy chromosomal aberration initially missed on ro [...]

by Rafail Nikolaos Tasakis  , F. Nina Papavasiliou  and Rita Shaknovich

Received: 03 December 2018;  Published: 08 April 2019;  doi: 10.21926/obm.genet.1902072

Cancer development and progression is strongly associated with somatic mutations. From oncogenic hits that initiate the primary tumor formation till metastasis, the tumor mutational burden (TBM) plays a prominent role in disease progression for the vast majority of cancer types. Heterogeneous mutational loads or genetic heterogeneity not only between individuals, but also between tumor cells, are causal to transcriptomic and proteomic discrepancies and to phenotypic diversity. In addition to mutations, RNA editing [...]