High biomass yield increases in a primary effluent wastewater phytofiltration are associated to altered leaf morphology and stomatal size in Salix miyabeana

Municipal wastewater treatment using willow ‘phyto’-filtration has the potential for reduced environmental impact compared to conventional treatment practices. However, the physiological adaptations underpinning tolerance to high wastewater irrigation in willow are unknown. A one-hectare phytofiltration plantation established using the Salix miyabeana cultivar ‘SX67’ in Saint-Roch-de-l'Achigan, Quebec, Canada, tested the impact of unirrigated, potable water or two loads of primary effluent wastewater 19 and 30 ML ha−1 yr−1. A nitrogen load of 817 kg N ha−1 from wastewater did not increase soil pore water nitrogen concentrations beyond Quebec drinking water standards. The willow phytofiltration phenotype had increased leaf area (+106–142%) and leaf nitrogen (+94%) which were accompanied by significant increases in chlorophyll a + b content. Wastewater irrigated trees had higher stomatal sizes and a higher stomatal pore index, despite lower stomatal density, resulting in increased stomatal conductance (+42–78%). These developmental responses led to substantial increases in biomass yields of 56–207% and potable water controls revealed the nitrogen load to be necessary for the high productivity of 28–40 t ha−1 yr−1 in wastewater irrigated trees. Collectively, this study suggests phytofiltration plantations could treat primary effluent municipal wastewater at volumes of at least 19 million litres per hectare and benefit from increased yields of sustainable biomass over a two-year coppice cycle. Added-value cultivation practices, such as phytofiltration, have the potential to mitigate negative local and global environmental impact of wastewater treatment while providing valuable services and sustainable bioproducts

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual

Autism, language delay and mental retardation in a patient with 7q11 duplication

International audienceBACKGROUND: Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located at 7q11.23, is commonly deleted in Williams-Beuren microdeletion syndrome (WBS). However, only four patients with a duplication of the WBCR have been reported to date: one with severe language delay and the three others with variable developmental, psychomotor and language delay. OBJECTIVE AND METHODS: In this study, we screened 206 patients with autism spectrum disorders for the WBCR duplication by quantitative microsatellite analysis and multiple ligation-dependent probe amplification. RESULTS: We identified one male patient with a de novo interstitial duplication of the entire WBCR of paternal origin. The patient had autistic disorder, severe language delay and mental retardation, with very mild dysmorphic features. CONCLUSION: We report the first patient with autistic disorder and a WBCR duplication. This observation indicates that the 7q11.23 duplication could be involved in complex clinical phenotypes, ranging from developmental or language delay to mental retardation and autism, and extends the phenotype initially reported. These findings also support the existence of one or several genes in 7q11.23 sensitive to gene dosage and involved in the development of language and social interaction

Autism, language delay and mental retardation in a patient with 7q11 duplication

Chromosomal rearrangements are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams–Beuren critical region (WBCR), located at 7q11.23, is commonly deleted in Williams–Beuren microdeletion syndrome (WBS). However, only four patients with a duplication of the WBCR have been reported to date. Here, 206 patients with autism spectrum disorders were screened for the WBCR duplication by quantitative microsatellite analysis and multiple ligation-dependent probe amplification. One male patient with a de novo interstitial duplication of the entire WBCR of paternal origin was identified. The patient had autistic disorder, severe language delay and mental retardation, with mild dysmorphism. The present report concerns the first patient with autistic disorder and a WBCR duplication. This observation indicates that the 7q11.23 duplication could be involved in complex clinical phenotypes, ranging from developmental or language delay to mental retardation and autism

Absence of mutations in the LGI1 receptor <i>ADAM22</i> gene in autosomal dominant lateral temporal epilepsy

Mutations in the LGI1 (leucine-rich, glioma inactivated 1) gene are found in less than a half of the families with autosomal dominant lateral temporal epilepsy (ADLTE), suggesting that ADLTE is a genetically heterogeneous disorder. Recently, it was shown that LGI1 is released by neurons and becomes part of a protein complex at the neuronal postsynaptic density where it is implicated in the regulation of glutamate-AMPA neurotransmission. Within this complex, LGI1 binds selectively to a neuronal specific membrane protein, ADAM22 (a disintegrin and metalloprotease). Since ADAM22 serves as a neuronal receptor for LGI1, the ADAM22 gene was considered a good candidate gene for ADLTE. We have therefore sequenced all coding exons and exon-intron flanking sites in the ADAM22 gene in the probands of 18 ADLTE families negative for LGI1 mutations. Although, we identified several synonymous and non-synonymous polymorphisms, we failed to identify disease-causing mutations, indicating that ADAM22 gene is probably not a major gene for this epilepsy syndrome

Subsidence and strike-slip tectonism of the upper continental slope off Manzanillo, Mexico

The direction of convergence between the Rivera and North American plates becomes progressively more oblique (in a counter-clockwise sense as measured relative to the trench-normal direction) northwestward along the Jalisco subduction zone. By analogy to other subduction zones, the forces resulting from this distribution of convergence directions are expected to produce a NW moving, fore-arc sliver and a NW–SE stretching of the fore-arc area. Also, a series of roughly arc parallel strike-slip faults may form in the fore-arc area, both onshore and offshore, as is observed in the Aleutian arc. In the Jalisco subduction zone, the Jalisco block has been proposed to represent such a fore-arc sliver. However, this proposal has encountered one major problem. Namely, right-lateral strike-slip faulting within the fore-arc sliver, and between the fore-arc sliver and the North American plate, should be observed. However, evidence for the expected right-lateral strike-slip faulting is sparse. Some evidence for right-lateral strike-slip faulting along the Jalisco block–North American plate boundary (the Tepic–Zacoalco rift system) has been reported, although some disagreement exists. Right-lateral strike-slip faulting has also been reported within the interior of the Jalisco block and in the southern Colima rift, which forms the SE boundary of the Jalisco block. Threefold, multi-channel seismic reflection data were collected in the offshore area of the Jalisco subduction zone off Manzanillo in April 2002 during the FAMEX campaign of the N/O L'Atalante. These data provide additional evidence for recent strike-slip motion within the fore-arc region of the Jalisco subduction zone. This faulting offsets right-laterally a prominent horst block within the southern Colima rift, from which we conclude that the sense of motion along the faulting is dextral. These data also provide additional evidence for recent subsidence within the area offshore of Manzanillo, as has been proposed

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

Objective: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51. Methods: We studied 6 familial and 20 simplex CMMcases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server. Results: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, = missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC). Conclusion: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered. © 2014 American Academy of Neurology