Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Enrichment and shifts in macrobenthic assemblages in an offshore wind farm area in the Belgian part of the North Sea

The growing development of offshore wind energy installations across the North Sea is producing new hard anthropogenic structures in the natural soft sediments, causing changes to the surrounding macrobenthos. The extent of modification in permeable sediments around a gravity based wind turbine in the Belgian part of the North Sea was investigated in the period 2011 – 2012, along four gradients (south-west, north-east, south-east, north-west). Sediment grain size significantly reduced from 427 µm at 200 m to 312 ± 3 µm at 15 m from the foundation along the south-west and north-west gradients. The organic matter content increased from 0.4 ± 0.01% at 100 m to 2.5 ± 0.9% at 15 m from the foundation. The observed changes in environmental characteristics triggered an increase in the macrobenthic density from 1390 ± 129 ind m-2 at 200 m to 18 583 ± 6713 ind m-2 at 15 m together with an enhanced diversity from 10 ± 2 at 200 m to 30 ± 5 species per sample at 15 m. Shifts in species dominance were also detected with a greater dominance of the ecosystem-engineer Lanice conchilega (16–25%) close to the foundation. This study suggests a viable prediction of the effects offshore wind farms could create to the naturally occurring macrobenthos on a large-scale

Rapid macrobenthic recovery after dredging activities in an offshore wind farm in the Belgian part of the North Sea

The development of offshore wind farms (OWFs) in the North Sea has increased considerably to create alternatives for fossil fuel energy. Activities related to the construction of OWFs, in particular gravity-based foundations (GBFs), are mainly associated to dredging, causing direct effects to the macrofauna in the seabed. The sediment characteristics and macrofauna were studied before and after construction (2005-2010) of six GBFs in an OWF in the Belgian part of the North Sea. We distinguished natural from anthropogenic-related fluctuations in macrofaunal communities by analysing a long-term dataset (1980-2012). The analysed sandbanks are characterised by sandy substrates and a community with low species abundance (180-812 ind m(-2)) and diversity (6-15 species per 0.1 m(2)). Strong temporal variations were observed possibly related to variable weather conditions in the area. Significant differences in community composition were observed due to the installation of six GBFs in the construction year of the OWF followed by a rapid recovery a year later and confirmed by the benthic ecosystem quality index BEQI. Even though the construction of GBFs creates a physical disturbance to the seabed, the macrobenthic community of these sediments have illustrated a fast recovery potential

Similar diversity-disturbance responses to different physical impacts: three cases of small-scale biodiversity increase in the Belgian part of the North Sea

Human activities at sea are still increasing. As biodiversity is a central topic in the management of our seas, it is important to understand how diversity responds to different disturbances related with physical impacts. We investigated the effects of three impacts, i.e. sand extraction, dredge disposal and offshore wind energy exploitation, on the soft-bottom macrobenthic assemblages in the Belgian part of the North Sea. We found similar diversity-disturbance responses, mainly related to the fact that different impacts caused similar environmental changes. We observed a sediment refinement which triggered a shift towards a heterogenic, dynamic (transitional) soft-bottom macrobenthic assemblage, with several species typically associated with muddy sands. This led to a local unexpected biodiversity increase in the impacted area. On a wider regional scale, the ever increasing human impacts might lead to a homogenization of the sediment, resulting in a more uniform, yet less diverse benthic ecosystem

ICES Workshop on the effects of offshore wind farms on marine benthos (WKEOMB) - Facilitating a closer international collaboration throughout the North Atlantic region

The workshop aimed at bringing experts working in the field of offshore wind farms – benthos together for the first time in order to get an overview on the state of the art. This was achieved by an extended poster session. The second issue of WKEOMB was to identify knowledge gaps and evaluating monitoring strategies. This issue was evaluated by disentangling the cause-effect relationships affected by the pressures of the activities during the construction and operation phase of offshore wind farms. All cause-effect relationships were summarized in a schematic presentation. The identifi-cation and a comprehensive overview of cause-effect relationships is a prerequisite for an efficient, hypothesis driven approach towards the disentanglement of the vari-ous effects of offshore wind farms on the marine benthos as well as on the whole eco-system. Further, manifold cause-effect relationships were prioritized based on three main research themes, biological resources – biogeochemical reactions – biodiversity, disentangled by the participants as relevant. An important outcome of the workshop is that benthos receives by far too little atten-tion compared to other ecosystem components (e.g. seabirds, marine mammals), al-though it contributes to a great extent to marine ecosystem services and goods, e.g. biodiversity, long-term carbon storage and trophic supply for higher trophic-level species. A second main outcome of WKEOMB was that legal baseline monitoring merely allows for net-effect descriptions but not for identifying and understanding the underlying processes. Key processes should be, thus, identified and become sub-ject to hypotheses-based target monitoring and/or experimental studies

A call for hypotheses‐based benthos research in offshore windfarm environmental impact studies

Offshore windfarms are expected to affect substantially the structure and functioning of marine ecosystems. Collision risks for migrating birds and noise impact on marine mammals and fish are issues of major public concern. Less charismatic organisms, however, from marine algae through to benthic invertebrates and demersal fish receive far less attention. We contend that the benthos deserves much greater attention owing to the numerous ecosystem goods and services, such as marine biodiversity and long‐term carbon storage and natural resources (e.g. for fish, birds, mammals, and finally humans), that are intimately linked to the benthic system. The installation and operation of extensive offshore windfarms in shallow shelf seas will initiate processes which are expected to affect benthic communities over various spatial and temporal scales. Extensive baseline monitoring programmes allow observations of structural changes to benthic communities, but this is a post‐hoc approach. To gain a mechanistic understanding of these processes that enables us to explain the observed changes, specific target monitoring and well‐designed experimental studies are required. In this conceptual talk we will discuss specific cause–effect relationships in the marine benthos arising from the anthropogenic activities associated with offshore windfarms. The identification of cause–effect relationships is the prerequisite for an efficient, hypothesis‐driven approach towards the disentanglement of the various effects of offshore windfarms on the marine benthos as well as on the whole ecosystem