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.

[The load and diversity of hereditary diseases in four raions of Rostov oblast].

The results of a medical genetic survey of the population of four raions (176 535 individuals) of Rostov oblast (Dubovsky, Zimovnikovsky, Myasnikovsky, and Krasnosulinsky raions) are presented. The load of autosomal dominant (AD), autosomal recessive (AR), and X-linked hereditary diseases for urban and rural population was calculated, and the diversity of monogenic hereditary diseases (MHD) was reviewed. The nosological spectrum of MHD constituted 117 diseases (63 diseases with AD inheritance; 38 with AR inheritance; and 16 with X-linked inheritance).

[Epidemiology of monogenic hereditary diseases in Rostov oblast: population dynamic factors determining the differentiation of the load of hereditary diseases in eight districts].

Analysis of the diversity of monogenic hereditary diseases in eight raions (districts) of Rostov oblast (region) of Russia (Tsimlyansk, Volgodonskoi, Tselina, Egorlykskaya, Millerovo, Tarasovskaya, Rodionovo-Nesvetaiskaya, and Matveevo-Kurgan raions) has been summarized. The total sample size was 320925 subjects. The spectrum of hereditary diseases detected in the eight districts comprises 187 diseases, including 99 autosomal dominant (AD), 72 autosomal recessive (AR), and 16 X-linked diseases.

[Epidemiology of monogenic hereditary diseases in Rostov Oblast: population dynamic factors determining the differentiation of the load of hereditary diseases in eight districts].

A genetic epidemiological study has been carried out in eight raions (districts) of Rostov oblast (region) of Russia: Tsimlyansk, Volgodonskoi, Tselina, Egorlykskaya, Millerovo, Tarasovskaya, Rodionovo-Nesvetaiskaya, and Matveevo-Kurgan raions. The population structure (the parameters of the isolation by distance model, ethnic assortative marriage, random inbreeding (F(ST), endogamy index, and ie) and the genetic demographic characteristics of the regional population (vital statistics, Crow's index, and its components) have been analyzed. The total sample size was 320925 subjects (including 114106 and 206816 urban and rural residents, respectively).

[Analysis of population genetic structure of ten district populations of the Rostov oblast by means of an extended isonymic method of Barrai and colleagues].

Parameters suggested by Barrai et al. (1992), including the random isonymy (I(r)), surname diversity (alpha), migration index (nu), and entropy (H) and redundancy (R) of surname distribution have been estimated in ten district populations of the Rostov oblast. Their weighted mean values are the following: I(r) = 0.