VISCED – Final Country/Region Reports

This is a description of the process and outcomes of creation of over 110 country reports specially contracted by VISCE

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

BACKGROUND:Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5. METHODS: We tested 23 unreported MCLMR index patients for KIF11. We also reviewed the clinical phenotypes of all our patients as well as of those described in previously published studies. RESULTS: We identified 14 mutations, 12 of which are novel. We detected mutations in 12 affected individuals, from 6 out of 6 familial cases, and in 8 out of 17 sporadic patients. Phenotypic evaluation of patients (our 26+61 earlier published=87) revealed microcephaly in 91%, eye anomalies in 72%, intellectual disability in 67% and lymphedema in 47% of the patients. Unaffected carriers were rare (4 out of 87: 5%). Family history is not a requisite for diagnosis; 31% (16 out of 52) were de novo cases. CONCLUSIONS: All inherited cases, and 50% of sporadic cases of MCLMR are due to germline KIF11 mutations. It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect. On the other hand, some of them might have another mimicking disorder and genetic defect, as microcephaly is highly heterogeneous. In aggregate, KIF11 mutations likely cause the majority, if not all, of MCLMR

Targeted Next Generation Sequencing unravels loss-of-function mutations in two lymphangiogenic factors in primary lymphedema patients

Primary lymphedema (PLE) is an accumulation of lymph characterized by swelling of parts of the body, that can be transmitted from generation to generation. But at least 60% of patients were not genetically explained. In a cohort of 542 patients, 66 genes were screened. Causative mutations in 14 known genes explained about 40% of inherited PLE whom novel ones in “unappreciated” genes encoding growth factors, VEGFC and HGF. For these last ones, in vitro studies revealed loss-of-function responsible of PLE by haploinsufficiency or hypomorphic alleles. Reduced activity of the c-MET/PI3K/AKT pathway due to HGF deficiency underscores the crucial role of this pathway in the disease. This thesis contributed to determine the origin of lymphedema of a larger number of patients. Recognition of causative mutations among variants of uncertain significance is still useful to explain more patients but other candidate genes are likely to be discovered by whole exome sequencing.(BIFA - Sciences biomédicales et pharmaceutiques) -- UCL, 201

Contribution à l'étude des constituants antibiotiques de Cnicus Benedictus L.

Doctorat en sciences pharmaceutiquesinfo:eu-repo/semantics/nonPublishe

Behavioural patterns of endangered grey parrots (Psittacus erithacus) in a forest clearing in the Democratic Republic of the Congo

The data contains an R script used to carry out the analyses contained in our manuscript entitled 'Behavioural patterns of endangered grey parrots (Psittacus erithacus) in a forest clearing in the Democratic Republic of the Congo' as well as the four excel files needed to run the script and containing all data gathered in the field.THIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE. TO VIEW A LIST OF FILES AND ACCESS THE FILES IN THIS DATASET CLICK ON THE DOI-LINK ABOV

Targeted expansion of Protected Areas to maximise the persistence of terrestrial mammals

ABSTRACTOver a quarter of species assessed by the IUCN Red List are threatened with extinction. A global commitment to protect 17% of land and 10% of the oceans by 2020 is close to being achieved, but with limited ecological impacts due to its inadequacy and poor enforcement. Here, we reverse-engineer IUCN Red List criteria to generate area-based conservation targets and spatial conservation priorities to minimize the extinction risk of the world terrestrial mammals. We find that approximately 60% of the Earth’s non-Antarctic land surface would require some form of protection. Our results suggest that global conservation priority schemes, among which the Aichi targets, will be inadequate to secure the persistence of terrestrial mammals. To achieve this goal, international cooperation is required to implement a connected and comprehensive conservation area network, guided by high priority regions outlined in this study.</jats:p