Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia. Notably, all affected males in both families exhibited isolated oligodontia, while almost all female carriers showed a milder or normal phenotype. We hypothesized that the EDA gene could be responsible for sporadic non-syndromic oligodontia in affected males. In this study, we examined 15 unrelated males with non-syndromic oligodontia. Three novel EDA mutations (p.Ala259Glu, p. Arg289Cys, and p.Arg334His) were identified in four individuals (27%). A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males.KEY WORDs: EDA gene, oligodontia, mutation, non-syndromic.

Increasing evidence suggests that secondary organic aerosol (SOA) is formed through aqueous phase reactions in atmospheric clouds. In the present study, the aqueous oxidation of methyl vinyl ketone (MVK) and methacrolein (MACR) via OH radical were investigated, with an emphasis on the composition and variation of small-molecular-weight organic products. In addition, high-molecular-weight compounds (HMWs) were found, interpreted as the ion abundance and time evolution. Our results provide, for the first time to our knowledge, experimental evidence that aqueous OH-oxidation of MVK contributes to SOA formation. Further, a mechanism primarily involving radical processes was proposed to gain a basic understanding of these two reactions. Based on the assumed mechanism, a kinetic model was developed for comparison with the experimental results. The model reproduced the observed profiles of first-generation intermediates, but failed to simulate the kinetics of most organic acids mainly due to the lack of chemical kinetics parameters for HMWs. A sensitivity analysis was performed in terms of the effect of stoichiometric coefficients for precursors on oxalic acid yields and the result indicates that additional pathways involving HMWs chemistry might play an important role in the formation of oxalic acid. We suggest that further study is needed for better understanding the behavior of multi-functional products and their contribution to the oxalic acid formation

[1] For the 2008 Beijing Olympic Games full-scale control (FSC) of atmospheric pollution was implemented to improve the air quality from 20 July to 20 September 2008, resulting in a significant decrease in the emission of pollutants in urban Beijing, especially vehicular emissions. The combination of reduced emissions and weather condition changes provided us with a unique opportunity to investigate urban atmospheric chemistry. Hydrogen peroxide (H 2 O 2 ) and organic peroxides play significant roles in atmospheric processes, such as the cycling of HO x radicals and the formation of secondary sulfate aerosols and secondary organic aerosols. We measured atmospheric H 2 O 2 and organic peroxides in urban Beijing, at the Peking University campus, from 12 July to 30 September, before and during the FSC. The major peroxides observed were H 2 O 2 , methyl hydroperoxide (MHP), and peroxyacetic acid (PAA), having maximal mixing ratios of 2.34, 0.95, and 0.17 ppbv (parts per billion by volume), respectively. Other organic peroxides were detected occasionally, such as bis-hydroxymethyl hydroperoxide, hydroxymethyl hydroperoxide, ethyl hydroperoxide, and 1-hydroxyethyl hydroperoxide. On sunny days the concentrations of H 2 O 2 , MHP, and PAA exhibited pronounced diurnal variations, with a peak in the afternoon (1500-1900) and, occasionally, a second peak in the evening (2000-0200). The night peaks can be attributed to local night production from the ozonolysis of alkenes, coupled with the reaction between NO 3 radicals and organic compounds. Sunny-day weather dominated during 16-26 July, and we found that the concentrations of H 2 O 2 , MHP, and PAA increased strikingly on 22-26 July, compared with the concentrations during 16-19 July. This effect was mainly attributed to the NO x (NO and NO 2 ) decline because of the FSC, due to (i) the suppressing effect of NO and NO 2 on the production of peroxides and (ii) the indirect effect of reduced NO x on the concentration of peroxides via O 3 production in the volatile organic compound-sensitive area. Although the time period from 29 July to 15 August fell within the FSC, the concentrations of H 2 O 2 , MHP, and PAA decreased significantly. This can be explained by a combination of chemical and physical factors during this period, when rainy-and cloudy-day weather dominated. Weaker irradiation and lower temperatures resulted in a lower photochemical production of peroxides; the higher humidity resulted in their greater loss through their aqueous-phase oxidation of S(IV) and through heterogeneous removal, and lower temperatures and higher nighttime humidity resulted in a quicker surface deposition of peroxides. Furthermore, our observations seem to imply that the heterogeneous removal of H 2 O 2 is faster than that of MHP, as indicated by the strong negative correlation between the H 2 O 2 -to-MHP ratio and the aerosol surface area.