Search results for "facies"
showing 10 items of 232 documents
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
2022
Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible…
Hydrochemical evolution and environmental features of Salso River catchment, central Sicily (Italy)
2000
A hydrogeochemical study of the Salso River highlighted the chemical and isotopic space-time evolution along its flow path and the main contamination processes. Within the basin, three different hydrogeochemical facies have been individuated: (1) Ca-Mg-HCO3, (2) Ca-Mg-SO4 and (3) Na-Cl. The first facies reflects the chemical composition of the groundwaters hosted in the carbonate reliefs that belong to the Madonie Mountains. The second and the third facies are the result of the interaction processes between surface waters and the gypsum and salty clays, respectively. Two pollution sources have been also located in the basin downstream from the salt mine and downstream from a discharge area …
First xiphosuran traceway in the middle Muschelkalk facies (Middle Triassic) of the Catalan Basin (NE Iberian Peninsula)
2021
In the last decade, the first ichnoassamblages from the middle Muschelkalk facies (upper Anisian-middle Ladinian) of the Catalan Basin (NE Iberian Peninsula) have been discovered. Herein, the first xiphosuran trace fossils are described from the locality of Penya Rubí, a newly discovered ichnosite from the Catalan Basin. The finding opens a window into peri-Tethys ecosystems with coastal influence. The traceway is referred to the ichnogenus Kouphichnium, a locomotion trace attributed to xiphosurans. The traceway preserves telson grooves and different imprint morphologies from the various appendages. The traceway pattern and arrangement of the different traces suggest a crawling locomotion s…
Diffusion versus recrystallization processes in Rb–Sr geochronology: Isotopic relics in eclogite facies rocks, Western Gneiss Region, Norway
2008
Abstract Rb–Sr and U–Pb isotopic data for granulite facies rocks, forming textural relics with respect to eclogite facies metamorphism in the Western Gneiss Region (WGR) of Norway, highlight the importance of textures and mineral reaction kinetics for the interpretation of geochronological data. Studied rocks from Bardsholmen, southern WGR, were subjected to granulite facies metamorphism at 955 ± 3 Ma (U–Pb, zircon). Later on, they experienced a subduction-related, kinetically stranded eclogitization ( T > 650 °C at ∼20 kbar) at 404 ± 2 Ma (Rb–Sr multimineral internal isochron data), followed by exhumation through amphibolite facies conditions. Full conversion of granulite to eclogite was …
(Table 1) Trace element/Ca ratios of Orbulina universa shells from late Neogene Mediterranean samples
2008
A Mediterranean composite sedimentary record was analyzed for Ba/Ca ratios on carbonate shells of Orbulina universa planktonic foraminifer (Ba/Ca)carb providing the opportunity to study and assess the extent of freshwater inputs on the basin and possible impacts on its dynamics during the Tortonian to Recent period. A number of scanning electron microscope analyses and auxiliary trace element measurements (Mn, Sr, and Mg), obtained from the same samples, exclude important diagenetic effects on the studied biogenic carbonates and corroborate the reliability of (Ba/Ca)carb ratios in foraminifera calcite as indicators of seawater source components during the studied interval. A long-term trend…
Controls on lineation development in low to medium grade shear zones: a study from the Cap de Creus peninsula, NE Spain
2002
Lineations composed of similarly oriented elongate mineral aggregates or grains are a common feature in deformed rocks, but it is unclear which factors control the development of such lineations. Field observations and microstructural analysis of samples, which were taken from discrete greenschist to lower amphibolite facies shear zones of the easternmost Variscan Pyrenees, show that strain is only one of several factors that control the strength and type of a lineation. Dynamic recrystallization, metamorphic reactions and rigid body rotation are also important controlling factors for the development of lineations. The most important of these is dynamic recrystallization. The way in which d…
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation
2018
IF 2.264; International audience; Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de novo TBL1XR1 variant (c.1337A > G; p.Tyr446Cys) has been identified in eight patients by whole‐exome sequencing. A dominant‐negative effect of this mutation is strongly suspected, since patients with TBL1XR1 deletion and other variants predicting loss of function do not share the same phenotype. We report two patients with typical Pierpont‐like syndrome features. Exome sequencing allowed identifying a de novo heterozygous missense TBL1XR1 variant in both patients, different from those already reported: …
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
2021
International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebel…
2018
International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgene…
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
2016
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmo…