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ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo heterozygous ANKRD17 variants. The mutational spectrum of this cohort of 34 individuals from 32 families is highly suggestive of haploinsufficiency as the underlying mechanism of disease, with 21 truncating or essential splice site variants, 9 missense variants, 1 in-frame insertion-deletion, and 1 microdeletion (1.16 Mb). Consequently, our data indicate that loss of ANKRD17 is likely the main cause of phenotypes previously associated with large multi-gene chromosomal aberrations of the 4q13.3 region. Protein modeling suggests that most of the missense variants disrupt the stability of the ankyrin repeats through alteration of core structural residues. The major phenotypic characteristic of our cohort is a variable degree of developmental delay/intellectual disability, particularly affecting speech, while additional features include growth failure, feeding difficulties, non-specific MRI abnormalities, epilepsy and/or abnormal EEG, predisposition to recurrent infections (mostly bacterial), ophthalmological abnormalities, gait/balance disturbance, and joint hypermobility. Moreover, many individuals shared similar dysmorphic facial features. Analysis of single-cell RNA-seq data from the developing human telencephalon indicated ANKRD17 expression at multiple stages of neurogenesis, adding further evidence to the assertion that damaging ANKRD17 variants cause a neurodevelopmental disorder.

PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts. METHODS: We performed exome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers. Phenotypic and mutational comparisons were facilitated through data exchange platforms. Whole-transcriptome sequencing was performed on RNA from patient- and control-derived fibroblasts. RESULTS: We identified heterozygous missense variants in TRAF7 as the cause of a developmental delay-malformation syndrome in 45 patients. Major features include a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations, and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent. Several differentially expressed genes were identified in patient fibroblasts. CONCLUSION: We provide the first large-scale analysis of the clinical and mutational spectrum associated with the TRAF7 developmental syndrome, and we shed light on its molecular etiology through transcriptome studies.

In the wake of the latest news regarding IPB’s award for best Polytechnic Institute in Portugal, we would like to congratulate the IPB community who has always striven for the quality of the institution within the national and international academic milieu. We are, undoubtedly, bowled over by the 1st place in the national context (out of the 27 national institutions under evaluation) and the 7th position in the international scope. In fact, it is worth mentioning that the IPB has won this award, three years in a row, being in a leading position in the ranking promoted and sponsored by the European Union. This year’s edition has selected and evaluated over 1300 world higher education institutions. Teaching Crossroads intends thus to give a watershed contribution to the IPB’s successful and most valued pathway. Numbers indicate that Teaching Crossroads has had over 2550 downloads since it first came out. But let’s cut to the chase. Once again, we are delighted to present the 5th number of Teaching Crossroads. This wholly calculated and well-sustained editorial adventure started in 2012 when the first number of Teaching Crossroads first saw the light. This year’s publication includes the areas of Human Geography/anthropology, Information Technology and Forensics and Language and culture, focusing on minority languages. Alongside this, as in the two last previous numbers, we’ve included the specific area for International mobility, Intensive Programmes and Erasmus+ Mobility of Individuals, being the latter financed by the European Union within the Erasmus+ Programme, whereas the former is sponsored uniquely by the foreign partner institution, in this case, Lillebaelt Academy in Denmark. These types of programmes convey very positive and overarching ideas, resonant in cross-cultural and educational benefits, valuable for all the involved partners. We would very kindheartedly like to thank the authors for having contributed with much enlightening and serious articles on a wide array of areas. Pablo M. Orduna Pórtus’s article focuses on border culture and heritage management. The author’s study is placed on two borderlands of the Iberian Peninsula: Roncal Valley (Navarre) and Riverbanks of Douro. Going beyond the linear or physical conception of the border, the author centres his study on the metaphysical and symbolic ideas of the frontier that sustain his anthropological analysis. Michal Popdora manages to find evidence for his proposal of a new conception of teaching Image Processing, based on the student-centered approach. A hands-on experience on a Project-based Learning methodology sustains the teaching project. Grounded on “a forensic-flavored style”, using the author’s own words, he shows how students can become engaged in a highly effective learning process. Cláudia Martins is already a confirmed habitué of this publication, as in every Erasmus Week she delivers a lecture on Portuguese language and culture to visiting teaching and non-teaching staff. This time, the author decided to delve into a Portugal’s official language, Mirandese, spoken in a small designated area in the northeastern part of Portugal, Miranda do Douro and its surrounding area. The author gives account of some thought-provoking facts about the language, from the origin and the survival of the language, however still a minority language, up to the moment when it was acknowledged Portugal’s second official language, together with the challenges that nowadays faces. Luís Frölen Ribeiro, João Eduardo Ribeiro, Carlos Casimiro Costa, António Duarte, Carlos Andrade from the Polytechnic Institute and Arne Svinth, John Madsen, Morten Thomsen, Kent Smidstrup, Carsten John Jacobsen from the Lillebaelt Academy, in Denmark, participate in a joint project which they describe, outlining the main goals and gains of the project. To overcome teaching difficulties regarding the engineering degrees, a 12-ECTS joint course from Lillebaelt Academy and Polytechnic Institute of Bragança was created based on the Danish model. The course Product Development and Industrial Processing was hence created. Rui Pedro Lopes presents an insightful and acute account of the Internationalization programmes in Higher Education in Europe. At one go, the author describes his own experience as a visiting lecturer, within the Erasmus+ programme, to Università Politecnica delle Marche in Ancona, Italy, in a Master’s degree in computer science, bringing to light a personal reflection on the goals and benefits of the mobility for both students and teachers. Finally, the author puts forth some suggestions that would improve the whole mobility process. We sincerely hope to have stimulated you to keep on reading, upholding the belief that these texts can represent valuable sources for both teachers and students in their research work.

We are proud to present the second number of Teaching Crossroads, within the 8th IPB Erasmus week which took place in May 2012. This publication is the result of the papers delivered during our Erasmus Week that is becoming increasingly popular among teaching and non-teaching staff from several Erasmus partner Universities. Similarly to last year, we are continuing the publication of Teaching Crossroads whose main purpose is to reach students and teaching staff of the IPB (Polytechnic Institute of Bragança) and of other IPB partner universities. With this in view, the authors also made an attempt to present material in a manner which can be readily grasped by students and non-specialists. Likewise, we also believe it is important to have a written register of what is being studied by some researchers in Europe and make it available to students. Bearing in mind the open spirit of this publication, everyone is invited to participate with their papers delivered during the Erasmus Week at the IPB. The result was pleasantly rewarding as we had enthusiastic participants who very willingly made their texts available for publication. The organisation of the Erasmus week has been a tradition since started in 2005 aiming at a more efficient collaboration with our European partners so that they would become more familiar with the IPB campus, its schools, the city and the region. During the IPB Erasmus Week, the Institute organises teaching and staff training (STT) and the seminars arranged under Staff Teaching Assignment (STA) that are scheduled and introduced in the regular timetable of Bachelors and Masters’ degrees classes. Having now participated in the Erasmus mobility programme for more than twelve years, the IPB is acknowledged as one of the Portuguese institutions that promotes students and teaching mobility the most, positioning IPB on the top of the European HEIs and on a high level in the current international scene. The review of these articles has been thorough, yet some unexpected flaws may still occur. Nevertheless, the content of the texts remains intact, without distorting the aims of the texts, and the references are the authors’ own responsibility. Therefore, we accept no liabilities for any error or theoretical inconsistency or any missing information. The research areas are quite multidisciplinary, touching on areas as different as business sciences and law, agricultural sciences and natural resources, chemistry, multimedia and education. These areas comply with the areas of study that the IPB has on offer. This publication is hence rather beneficial for our students, as well as teachers and researchers. Ziemowit Kukulski, with his customary precision, expands on a topic that is truly current and relevant nowadays: ‘The elimination of double taxation in juridical sense from Polish perspective’. Notwithstanding the fact that the study focused on a particular country, the author is also concerned with comparing both the Polish and the Portuguese juridical taxation framework. Rosa Vásquez presents a study on how the environment plays an important role in the economy and can contribute to making the business sector more dynamic. Emphasising the importance of state policies that affect the environment, her text outlines the different instruments available to public administration in order to enable environmental control of productive activities and promote good conduct in favour of environmental conservation. Bodgan Vlad Avarvarei presents the results of an analysis of commodity for some yoghurt assortments sold on Iasi market, in Romania. The author also aims to inform the consumers regarding not only all the information which must be marked on, such as fat content, nutritive value, shelf life, storage temperature, etc., but also to give some hints on the product design. Mario de la Fuente Lloreda gives a lesson on different ways of Spanish viticulture, exposing examples of one of the most emblematic D.O. (denominación de origen, i.e. protected designation of origin) quality brands and their evolution up to today. Igor Barényi’s text delves into spectral analysis, focusing on the description of several spectroscopic methods to examine chemical composition of metal and alloys. Esteban Galán-Cubillo takes us on a tour to the use of systems of virtual scenography, along with the use of other digital technologies. Cláudia Martins’s text gives us a very insightful glimpse on Portuguese meteorological adages and proverbs bearing the highly suggestive title ‘Nine months of winter, three months of scorching hell’. Besides that, the author also presents a thorough linguistic explanation on fixed language, ranging from collocations to idiomatic expressions, based on several keynote authors, with a particular focus on pragmatic phrases, i.e. proverbs and adages. Jan Michalko makes an introduction to Cyber Space Economics and its relevance for such an important area as education or even training of citizens as it is in the case of public services for increasing levels of e-government. The author also emphasises the importance of Internet applications that provide a number of opportunities for education, communication and business. Slawomir Sztajer presents a deep reflection on religion, establishing a link between cognition and religion. The author expands on this new approach of religion, explaining and interpreting religious phenomena from the perspective of cognitive science. The ingredients for a gainful and stimulating reading are now served. We hope that this publication works for the interest of many students and teachers who find here information for their own studies and learn a bit more about the countries referred to here, sharing learning experiences and scientific knowledge, as well as cultural heritage. That is also the essence of the Erasmus programme.

The Polytechnic Institute of Bragança (IPB) has participated in the Erasmus mobility programme for more than twelve years, becoming thus one of the Portuguese institutions that promotes students and teaching mobility the most. In the last decade, the IPB supported the mobility of 2900 students and more than 600 teachers and staff within this programme. These mobility numbers also place the IPB on a high level in the current international scene. The IPB is on the Top 100 of the European HEIs with the highest reception rates of teachers in Erasmus mobility. Since 2005, the IPB has organized an Erasmus Week for a more efficient collaboration with our European partners and to allow their teachers and staff to become familiar with the IPB campus, its Schools, the city and the region. During the IPB Erasmus Week, the IPB organizes teaching and staff training (STT) and the seminars prepared under Staff Teaching Assignment (STA) are scheduled and introduced in the regular timetable of Bachelors and Masters’ degrees classes. We believe that this represents an important opportunity to our students to learn from teachers all over Europe and to complement their education and training. Because our Erasmus Week is becoming a growing success, we proposed a new initiative to enhance the dissemination of the competences learned in the seminars delivered by our guest teachers. We challenged them to join our first edition of Teaching Crossroads, a result of the seminars/lectures/workshops provided during the 7th IPB Erasmus Week, held from 2nd to 6th May 2011. I wish to thank all the teachers who joined our initiative and hope that their visit to the IPB will, in this way, remain in time and in our memory. I also wish to express my gratitude to the excellent job performed by Elisabete Silva and Clarisse Pais who made this project come true. And see you again next May 2012, for the 8th IPB Erasmus Week and the second edition of these Teaching Crossroads at the IPB!