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Chemically induced aneuploidy in germ cells. Part II of the report of the 2017 IWGT workgroup on assessing the risk of aneugens for carcinogenesis and hereditary diseases Vrije Universiteit Brussel

Francesca Pacchierotti, Kenichi Masumura, David A Eastmond, Azeddine Elhajouji, Roland Froetschl, Micheline Volders, Anthony Lynch, Maik Schuler, David Tweats, Francesco Marchetti, et al.

As part of the 7th International Workshops on Genotoxicity Testing held in Tokyo, Japan in November 2017, a workgroup of experts reviewed and assessed the risk of aneugens for human health. The present manuscript is one of three manuscripts from the workgroup and reports on the unanimous consensus reached on the evidence for aneugens affecting germ cells, their mechanisms of action and role in hereditary diseases. There are 24 chemicals with ...

Next-generation sequencing in prenatal setting Vrije Universiteit Brussel KU Leuven

Berardo Rinaldi, Valerie Race, Anniek Corveleyn, Evelien Van Hoof, Marijke Bauters, Kris Van den Bogaert, Ellen Denayer, Thomy de Ravel, Eric Legius, Marcella Baldewijns, et al.

The application of next-generation sequencing to fetal pathology has proved to increase the diagnostic yield in fetuses with abnormal ultrasounds. We retrospectively reviewed genetic data of 30 selected cases studied through targeted resequencing of OMIM genes. In our experience, clinical data proved to be essential to support diagnostic reasoning and enhance variants' assessment. The molecular diagnosis was reached in 19/30 (63%) cases. Only ...

Mechanisms underlying host defense and disease pathology in response to severe acute respiratory syndrome (SARS)-CoV2 infection: insights from inborn errors of immunity KU Leuven

Giorgia Bucciol, Isabelle Meyts
PURPOSE OF REVIEW: The severe acute respiratory syndrome (SARS)-coronavirus 2 (CoV2)/COVID-19 pandemic has reminded us of the fundamental and nonredundant role played by the innate and adaptive immune systems in host defense against emerging pathogens. The study of rare 'experiments of nature' in the setting of inborn errors of immunity (IEI) caused by monogenic germline variants has revealed key insights into the molecular and cellular ...

The Role of TorsinA in Brain Lipid Metabolism KU Leuven

Ana Catarina Carapinha Cascalho
Mutations in TOR1A/TorsinA cause poorly explained and symptomatically complex neurological diseases. Dominant inheritance of a three-base pair deletion (Δgag) that removes a single amino acid (+/ΔE) underlies a partially-penetrant isolated dystonia that occurs despite a structurally normal brain. In contrast, recessive TorsinA disease caused by several biallelic combinations of mutations is characterized by a wide variety of severe neurological ...