TTENTION TO DEPRESSION AND suicide in physicians is long overdue. As early as 1858, physicians in England observed that a higher suicide rate exists among physicians than the general population. 1 Since the 1960s, research confirmed physicians' higher suicide rate and identified depression as a major risk factor. 2,3 Most strikingly, suicide is a disproportionately high cause of mortality in physicians, 4 with all published studies 5,6 indicating a particularly high suicide rate in female physicians.Inattention to depression and suicide in physicians sharply contrasts with heightened attention to physicians' smoking-related mortality. Since the 1960s, declines of 40% to 60% have oc-Author Affiliations: Employment Law Center and the
Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. We have now evaluated 14 Barth syndrome pedigrees for mutations in G4.5 and have identified unique mutations in all, including four splice-site mutations, three deletions, one insertion, five missense mutations, and one nonsense mutation. Nine of the 14 mutations are predicted to significantly disrupt the protein products of G4.5. The occurrence of missense mutations in exons 3 and 8 suggests that these exons encode essential portions of the G4. 5 proteins, whose functions remain unknown. We found no correlation between the location or type of mutation and any of the clinical or laboratory abnormalities of Barth syndrome, which suggests that additional factors modify the expression of the Barth phenotype. The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.