Background: Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature.Methods: Using... Show moreBackground: Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature.Methods: Using exome sequencing (ES) and international data sharing, we identified 14 additional unrelated individuals with pathogenic BRWD3 variants (12 males and 2 females, including one with skewed X -inactiva-tion). We reviewed the 31 previously published cases in the literature with clinical data available, and describe the collective phenotypes of 43 males and 2 females, with 33 different BRWD3 variants.Results: The most common features in males (excluding one patient with a mosaic variant) included ID (39/39 males), speech delay (24/25 males), postnatal macrocephaly (28/35 males) with prominent forehead (18/25 males) and large ears (14/26 males), and obesity (12/27 males). Both females presented with macrocephaly, speech delay, and epilepsy, while epilepsy was only observed in 4/41 males. Among the 28 variants with available segregation reported, 19 were inherited from unaffected mothers and 9 were de novo.Conclusion: This study demonstrates that the BRWD3-related phenotypes are largely non-specific, leading to difficulty in clinical recognition of this disorder. A genotype-first approach, however, allows for the more effi-cient diagnosis of the BRWD3-related nonsyndromic ID. The refined clinical features presented here may provide additional diagnostic assistance for reverse phenotyping efforts. Show less
In 2005, the EU Directive on Unfair Commercial Practices was adopted. The UCP Directive has the ambitious aim of addressing unfair commercial practices directly related to distorting consumers'... Show moreIn 2005, the EU Directive on Unfair Commercial Practices was adopted. The UCP Directive has the ambitious aim of addressing unfair commercial practices directly related to distorting consumers' economic behaviour concerning transactional decisions. In this introductory chapter to the edited volume "The European Unfair Commercial Practices Directive - Impact, Enforcement Strategies and National Legal Systems" (Willem van Boom, Amandine Garde & Orkun Akseli (eds.); Ashgate 2014), we first give a brief overview of the main features of the Unfair Commercial Practices Directive. Secondly, we sketch three themes that seem to have a prominent presence in all discussions of the Directive: the tension between consumer autonomy, empowerment and protection; the problematic nature of the maximum harmonization principle; and finally the decentralized enforcement framework and the challenges this poses at Member State level. Finally, we introduce the contributions to the volume. Show less
