PRESENCE AND PREVALENCE OF BD (BATRACHOCHYTRIUM DENDROBATIDIS) IN CENTRAL PENNSYLVANIAN WOODLAND VERNAL POOLS

Batrachochytrium dendrobatidis (Bd), a virulent chytrid fungus responsible for dramatic amphibian declines, has been detected in the northwestern and southeastern regions of Pennsylvania. However, little environmental Bd testing has been performed in central Pennsylvania, particularly in the unique and speciose habitats of woodland vernal pools. Our study included sampling in four vernal pools over a period of three months during amphibian breeding periods. Skin swabs were taken from three caudate and two anuran species, during the course of late winter and spring migrations (n = 143). Low Bd zoospore equivalent loads were detected in only a few individuals, in three of the five species but in all four vernal pools sampled. No significant trends were seen between zoospore loads and ambient temperature or migration timing across the species sampled

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Purpose: WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown. Method: We ascertained exome or genome sequences of individuals with rare familial or sporadic forms of intellectual disability (ID). Results: We identified a total of 6 different maternally-inherited, hemizygous, 3 loss-of-function or 3 pathogenic missense variants (p.Pro204Arg, p.Leu300Ser, p.Glu607Val) in WNK3 in 14 male individuals from 6 unrelated families. Affected individuals had ID with variable presence of epilepsy and structural brain defects. WNK3 variants cosegregated with the disease in 3 different families with multiple affected individuals. This included 1 large family previously diagnosed with X-linked Prieto syndrome. WNK3 pathogenic missense variants localize to the catalytic domain and impede the inhibitory phosphorylation of the neuronal-specific chloride cotransporter KCC2 at threonine 1007, a site critically regulated during the development of synaptic inhibition. Conclusion: Pathogenic WNK3 variants cause a rare form of human X-linked ID with variable epilepsy and structural brain abnormalities and implicate impaired phospho-regulation of KCC2 as a pathogenic mechanism.</p