Gradual caldera collapse at Bárdarbunga volcano, Iceland, regulated by lateral magma outflow

Large volcanic eruptions on Earth commonly occur with a collapse of the roof of a crustal magma reservoir, forming a caldera. Only a few such collapses occur per century, and the lack of detailed observations has obscured insight into the mechanical interplay between collapse and eruption.We usemultiparameter geophysical and geochemical data to show that the 110-squarekilometer and 65-meter-deep collapse of Bárdarbunga caldera in 2014-2015 was initiated through withdrawal of magma, and lateral migration through a 48-kilometers-long dike, from a 12-kilometers deep reservoir. Interaction between the pressure exerted by the subsiding reservoir roof and the physical properties of the subsurface flow path explain the gradual, nearexponential decline of both collapse rate and the intensity of the 180-day-long eruption.</p

Integration of SAR Data Into Monitoring of the 2014-2015 Holuhraun Eruption, Iceland: Contribution of the Icelandic Volcanoes Supersite and the FutureVolc Projects

We report how data from satellite and aerial synthetic aperture radar (SAR) observations were integrated into monitoring of the 2014–2015 Holuhraun eruption in the Bárðarbunga volcanic system, the largest effusive eruption in Iceland since the 1783–84 Laki eruption. A lava field formed in one of the most remote areas in Iceland, after the propagation of a ∼50 km-long dyke beneath the Vatnajökull ice cap, where the Bárðarbunga caldera is located. Due to the 6 month duration of the eruption, mainly in wintertime, daily monitoring was particularly challenging. During the eruption, the European volcanological project FutureVolc was ongoing, allowing collaboration of many European experts on volcano monitoring activities. Icelandic volcanoes are also a permanent Supersite within the Geohazard Supersites and Natural Laboratories (GSNL) initiative, with support from the Committee on Earth Observation Satellite (CEOS) in the form of a large collection of SAR images. SAR data were acquired by Cosmo-SkyMed (CSK) and TerraSAR-X (TSX) satellites and complemented by aerial SAR images. The large set of SAR satellite data significantly contributed to the daily monitoring during the unrest at Bárðarbunga caldera, the Holuhraun eruption and the year following the eruption. Detection of surface changes using both SAR amplitude and phase information was conducted throughout the whole duration of the volcano-tectonic event, and in the following months, to quantify and track the evolution of volcanic processes at Holuhraun and geothermal activity at Bárðarbunga volcano. Combination of SAR data with other data sets, e.g., satellite optical images and geodetic Global Positioning System (GPS) measurements, was essential for the evaluation of the volcanic hazard in the whole area. International collaboration within the FutureVolc project formed the basis for successful analyses and interpretation of the large SAR data set. Information was provided at Scientific Advisory Board meetings of the Icelandic Civil Protection and used in decision-making, as well as for supporting field-deployment and air-based surveys

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

International audienceBardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes have been identified, 3 of which have been found mutated only in a single BBS family each (BBS11/TRIM32, BBS13/MKS1 and BBS14/MKS4/NPHP6). Previous reports of systematic mutation detection in large cohorts of BBS families (n > 90) have dealt only with a single gene, or at most small subsets of the known BBS genes. Here we report extensive analysis of a cohort of 174 BBS families for 12/14 genes, leading to the identification of 28 novel mutations. Two pathogenic mutations in a single gene have been found in 117 families, and a single heterozygous mutation in 17 families (of which 8 involve the BBS1 recurrent mutation, M390R). We confirm that BBS1 and BBS10 are the most frequently mutated genes, followed by BBS12. No mutations have been found in BBS11/TRIM32, the identification of which as a BBS gene only relies on a single missense mutation in a single consanguineous family. While a third variant allele has been observed in a few families, they are in most cases missenses of uncertain pathogenicity, contrasting with the type of mutations observed as two alleles in a single gene. We discuss the various strategies for diagnostic mutation detection, including homozygosity mapping and targeted arrays for the detection of previously reported mutations

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance