A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants. Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change. Overall, 23 of 186 probands (discovery cohort) were found to harbour two likely disease-causing variants in USH2A. Some of these variants were predominantly associated with nonsyndromic retinal degeneration ('retinal disease-specific'); these included the common c.2276 G>T, p.(Cys759Phe) mutation and five additional variants: c.2802 T>G, p.(Cys934Trp); c.10073 G>A, p.(Cys3358Tyr); c.11156 G>A, p.(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the audiological phenotype was variable. USH2A retinopathy is a common cause of nonsyndromic recessive retinal degeneration and has a different mutational spectrum to that observed in Usher syndrome. The following model is proposed: the presence of at least one 'retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. Careful genotype-phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting.European Journal of Human Genetics advance online publication, 4 February 2015; doi:10.1038/ejhg.2014.283

Ethical reasoning and transformational leadership: An investigation of public sector leaders

Public sector organizations experiencing scandals due to unethical behavior pay a high price in personal and organizational losses, but moreover, trust in public service leaders is lost. It is critical that scholars interested in ethical governance empirically discover the factors that influence improved ethical behavior in public administration. Two factors have been theoretically linked to improved ethical behavior—ethical reasoning and the transformational leadership style. The primary objective of this research study was to quantitatively test the linear correlation between cognitive-moral development (CMD) and leadership style in a federal public sector organization. A secondary objective was to examine the correlation between ethical reasoning and the demographic variables of age, gender, education, and organizational discipline. The sample population of federal managers completed the DIT2 survey to assess CMD and their direct reports completed the MLQ survey to evaluate the manager's leadership style. The results reflected a weak positive correlation between ethical reasoning and the transformational leadership style; however, it was not statistically significant. Also, the data indicated a positive correlation between gender, education, and organizational discipline but an inverse relationship with age. A positive correlation for gender and education was expected and is supported by prior studies. However, the finding of an inverse relationship between moral reasoning and age contradicts numerous research findings indicating that moral reasoning increases with age