Novel loss-of-function variants in CDC14A are associated with recessive sensorineural hearing loss in Iranian and Pakistani patients

CDC14A encodes the Cell Division Cycle 14A protein and has been associated with autosomal recessive non-syndromic hearing loss (DFNB32), as well as hearing impairment and infertile male syndrome (HIIMS) since 2016. To date, only nine variants have been associated in patients whose initial symptoms included moderate-to-profound hearing impairment. Exome analysis of Iranian and Pakistani probands who both showed bilateral, sensorineural hearing loss revealed a novel splice site variant (c.1421+2T>C, p.?) that disrupts the splice donor site and a novel frameshift variant (c.1041dup, p.Ser348Glnfs*2) in the gene CDC14A, respectively. To evaluate the pathogenicity of both loss-of-function variants, we analyzed the effects of both variants on the RNA-level. The splice variant was characterized using a minigene assay. Altered expression levels due to the c.1041dup variant were assessed using RT-qPCR. In summary, cDNA analysis confirmed that the c.1421+2T>C variant activates a cryptic splice site, resulting in a truncated transcript (c.1414_1421del, p.Val472Leufs*20) and the c.1041dup variant results in a defective transcript that is likely degraded by nonsense-mediated mRNA decay. The present study functionally characterizes two variants and provides further confirmatory evidence that CDC14A is associated with a rare form of hereditary hearing loss

A practical culture technique for enhanced production of manganese peroxidase by Anthracophyllum discolor Sp4

In this study, different growth conditions of Anthracophyllum discolor Sp4 including the effect of agitation, additions of lignocellulosic support, inducer and surfactant were evaluated on the MnP production in Kirk medium using a culture system made up of the tubes containing the glass bead . The highest MnP production (1,354 U/L on day 13) was obtained when the medium was supplemented with wheat grain and 0.25 mM MnSO4 as inducer, under static conditions at 30°C. Two isoenzymes were purified (35 and 38 kDa respectively). MnP presented a maximal activity in the pH range between 4.5 and 5.5, a relatively high temperature tolerance (50ºC) and a high catalytic activity for 2,6-dimethoxyphenol and hydrogen peroxide

Tertiary relict laurophyll vegetation in the Madonie mountains (Sicily)

Laurel woodlands in the Madonie mountains (Sicily) are characterized by the presence of Laurus nobilis, Rhamnus lojaconoi and Vitis vinifera subsp. sylvestris. The results of a phytosociological study are presented, and a new endemic association, Rhamno lojaconoi–Lauretum nobilis, is described. Present Mediterranean laurel communities are the result of an adaptive response by Tertiary laurel forest to the peculiar microclimatic conditions that characterize the refugia where they persist. These refugia have been recently considered as a priority habitat under the Directive 92/43/EEC, and their plant communities are very vulnerable. Protection measures of the studied laurel populations are necessary, with particular reference to the bulking up of R. lojaconoi through in situ and ex situ propagation. A multivariate analysis of 63 relevés from all the Sicilian laurel communities described so far and additional 65 relevés from all over southern Europe and the Mediterranean basin bears out the autonomy of the new association, showing at the same time some oristic afnities between Sicilian, southern Italian, Spanish and Iberian associations. Their syntaxonomic treatment is discussed