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

Creativity Meets Politics: Pushing Originality, Emotion and Intrigue to Attract Young Voters

According to the Pew Research Center, young voters swung the 2012 presidential election. Can young voters swing the U.S. Senate race in Kentucky, considered to be among the nation\u27s most important races (Taylor, 2014)? As changes sweep through the political world, creativity is essential for survival. This test of creativity in the form of short public service announcements revealed that the key to getting young voters\u27 attention was a combination of originality, emotion, and intrigue. This research was based on in-depth exploration of creativity across the fields of photography, advertising, music, theater, and poetry. In April 2014, 49 subjects, whose ages range from 18 to 29, viewed six public service videos with different combinations of originality, emotion, and intrigue, and both quantitative and qualitative data was collected. The hypothesis that emotion would be a stronger factor than either originality or intrigue was upheld. Using bivariate tests and running a logistic regression on the significant variables suggested that the determining factor of a successful PSA (ie. one that respondents would hypothetically choose to fund) was a combination of originality and emotion. However, due to the low sample size, caution must be taken in drawing conclusions. The study of creativity in the political arena is a promising area of study, and larger-scale research must be done. These and future findings can benefit campaign managers looking to attract young voters and scholars studying the impact of creativity on the millennial generation

How Grit and Resilience Predict Successful Academic Performance

Predicting student success and preventing dropout are crucial efforts for higher education institutions. Many indicators are used to predict retention and performance such as high school GPA, SAT scores, and individual personal factors. Grit and resilience are two such individual factors useful in helping identify characteristics of successful students, although they have sparked much debate. For this longitudinal study, college students’ resilience score from the Effective Life-Long Inventory (ELLI) and the Grit test were used to predict cumulative grade point average. Resilience and Perseverance of Effort (POE), a subscale of the Grit test, were significant in predicting student performance. Efforts to improve retention and performance would benefit from interventions to build resilience and grit to help students be more aware of their strategies and overcome obstacles and thus prevent them from dropping out

The influence of chorion type on health measures at birth and dental development in Australian and Dutch twins: a comparative study

Chorion type may significantly influence the prenatal environment of twins. This study explored the associations between chorion type and gestational age, birth weight, birth length, and the timing of emergence of the first primary tooth in two populations of twins, Australian and Dutch. Additionally, we investigated the relationship between chorion type and birth weight discordance (BWD) in order to determine whether a significant relationship existed between discordance in birth weight and discordance in the timing of emergence of the first primary tooth. The two study samples consisted of 409 Australian twin pairs and 301 Dutch twin pairs, all of European ancestry. Data were collected through a combination of questionnaires and recording charts administered to the parents and through linkage with biological databases. In the Australian sample, monozygotic monochorionic (MZMC) twins experienced the shortest mean gestation time (35 weeks), the lowest mean birth length (46 cm) and the lowest mean birth weight (2.3 kg) compared with other twin groups. For the same variables in the Dutch sample, these trends with MZMC twinning were not observed. Chorion type did not significantly affect the mean timing of emergence of the first primary tooth in either sample. Monochorionicity was found to be significantly associated with BWD in both samples, but there was a significant association between BWD in MZMC twin pairs and timing of emergence of the first primary tooth only in the Australian sample. Results from this study support previous findings that the timing of emergence of the first primary tooth is influenced strongly by genetic factors and is well protected from environmental disturbances.Suzanna Mihailidis, Michelle Bockmann, Elise McConnell, Toby Hughes, Toos C. E. M. van Beijsterveldt, Dorret I. Boomsma, Minni McMaster, and Grant Townsen

The Production and Study of Cold Antihydrogen: ATRAP Progress in 2010

ATRAP Progress Report on 2010 Antiproton Ru

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes. Weaver syndrome is a human overgrowth condition characterised by tall stature, dysmorphic facial features, learning disability and variable additional features. We performed exome sequencing in four individuals with Weaver syndrome, identifying a mutation in the histone methyltransferase, EZH2, in each case. Sequencing of EZH2 in additional individuals with overgrowth identified a further 15 mutations. The EZH2 mutation spectrum in Weaver syndrome shows considerable overlap with the inactivating somatic EZH2 mutations recently reported in myeloid malignancies. Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growt