Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies

Tumors of the jaws may represent different human disorders and frequently associate with pathologic bone fractures. In this report, we analyzed two affected siblings from a family of Russian origin, with a history of dental tumors of the jaws, in correspondence to original clinical diagnosis of cementoma consistent with gigantiform cementoma (GC, OMIM: 137575). Whole exome sequencing revealed the heterozygous missense mutation c.1067G \u3e A (p.Cys356Tyr) in ANO5 gene in these patients. To date, autosomal-dominant mutations have been described in the ANO5 gene for gnathodiaphyseal dysplasia (GDD, OMIM: 166260), and multiple recessive mutations have been described in the gene for muscle dystrophies (OMIM: 613319, 611307); the same amino acid (Cys) at the position 356 is mutated in GDD. These genetic data and similar clinical phenotypes demonstrate that the GC and GDD likely represent the same type of bone pathology. Our data illustrate the significance of mutations in single amino-acid position for particular bone tissue pathology. Modifying role of genetic variations in another gene on the severity of the monogenic trait pathology is also suggested. Finally, we propose the model explaining the tissue-specific manifestation of clinically distant bone and muscle diseases linked to mutations in one gene

Somatic and psychological distress among Russian university students during the COVID-19 pandemic

Objective Previous studies highlighted a high prevalence of mental health issues among students during the COVID-19 pandemic, but there is no evidence from Russia. This study was aimed to examine the prevalence of somatic and psychological distress among Russian university students. Method The cross-sectional study was conducted in March-April 2021. The participants were university students from several regions of Russia (N = 1236). The Patient Health Questionnaire-15 and Depression, Anxiety, and Stress Scales-21 were used to measure the somatic and psychological distress. Results The prevalence of somatic burden, depression, anxiety, and stress was 72.2%, 54.7%, 63.4%, and 55.4%, respectively. Somatic burden, anxiety, and stress were more frequently observed in females and students with experience of COVID-19 disease compared to males and students without experience of COVID-19 disease. Conclusions These data illuminate the high prevalence and potential risk factors for somatic and psychological distress among Russian university students and determine the importance of psychoeducation and preventive measures in the Russian university environment.The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This study was funded by RFBR and NSFC (project No.20-51555003) and partly by the Government contract of the Institute of Immunology and Physiology (AAAA-A21-121012090090-9)