Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP‐sensitive potassium (KATP) channels, respectively. Multiple case reports of affected individuals have described the various clinical features of CS, but systematic studies are lacking. To define the effects of genetic variants on CS phenotypes and clinical outcomes, we have developed a standardized REDCap‐based registry for CS. We report phenotypic features and associated genotypes on 74 CS subjects, with confirmed ABCC9 variants in 72 of the individuals. Hypertrichosis and a characteristic facial appearance are present in all individuals. Polyhydramnios during fetal life, hyperflexibility, edema, patent ductus arteriosus (PDA), cardiomegaly, dilated aortic root, vascular tortuosity of cerebral arteries, and migraine headaches are common features, although even with this large group of subjects, there is incomplete penetrance of CS‐associated features, without clear correlation to genotype.

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The hemlock woolly adelgid (Adelges tsugae Annand) is a small, aphid-like insect native to East Asia and western North America. First documented in the eastern United States in Richmond, VA, in 1951, it has spread to at least 17 states, where it causes increased mortality among both eastern and Carolina hemlocks (Tsuga canadensis Carrière and T. caroliniana Engelmann., respectively). Previous work has suggested low temperatures may limit northward spread of the adelgid. Using recent surveys of A. tsugae mortality across the infested latitudinal gradient of the eastern United States, we show there is a significant positive relationship between minimum winter temperatures and winter survival at the landscape scale. The strength and nature of this relationship, however, varies through time, with absolute minimum winter temperatures explaining almost one half of the tree-level variance in survival in the spring of 2004 but only 9% in 2003. Post hoc analyses of the data suggest the explanatory power of temperature can be improved in ongoing studies by examining seasonal temperature profiles. Previous studies have also suggested adelgid survival may be density dependent, and although these data support this observation, contemporary density is a poor predictor of adelgid survival at the landscape scale. Using landscape estimates of minimum winter temperature, we show two simple methods of estimating landscape-scale adelgid survival rates. Both methods suggest much of the range of T. canadensis in the eastern United States, and the entire range of T. caroliniana falls in areas where winter temperatures will not impose critical limits on A. tsugae populations.

Knowledge of intraspecific variation in symbioses may aid in understanding the ecology of widespread insects in different parts of their range. We investigated bacterial symbionts of Adelges tsugae, a pest of hemlocks in eastern North America introduced from Asia. Amplification, cloning, and sequencing of bacterial 16S rDNA, in situ hybridizations, and electron microscopy revealed that A. tsugae harbours up to five bacterial phylotypes, according to population. Three Gammaproteobacteria species are maternally transmitted. The first, designated 'Ca. Pseudomonas adelgestsugas' resides in the haemocoel, and was detected in all populations except Taiwan. The second phylotype, 'Ca. Serratia symbiotica', resides in bacteriocytes of populations on Tsuga sieboldii in Japan and in E. North America. The third phylotype, designated 'Ca. Annandia adelgestsuga', clustered within a lineage of several insect endosymbionts that included Buchnera aphidicola. It was detected in bacteriocytes in all populations, and in salivary glands of first instars. Two Betaproteobacteria phylotypes were detected in some Japanese T. sieboldii and eastern North America populations, and were observed only in salivary glands with no evidence of maternal transmission. Our results support the ideas that symbiont gain and loss has been volatile in adelgids, and that symbionts may help to trace the source of invasive species.

The terpenoid content of eastern hemlock (Tsuga canadensis) foliage was measured over an annual cycle of development from bud opening, shoot elongation, shoot maturation, to bud-break at the start of the next growing season. The objective was to determine if variation in terpenoid composition is linked with spatial and temporal feeding preferences of the hemlock woolly adelgid (HWA; Adelges tsugae). The HWA has two periods of feeding over the course of 1 yr spanning two complete generations. There are two periods of feeding separated by a nonfeeding period where the adelgid estivates. HWA prefers to feed on mature, rather than young, expanding tissue. Feeding occurs in the leaf cushion at the base of the needle. The needle is the only tissue in hemlock with resin canals that store terpenoids. The needle and leaf cushion of both the current and previous years' growth were analyzed separately over a 1-yr period to examine the variation of terpenoid composition in space and time. Terpenoids were quantified by using headspace solid-phase microextraction/gas chromatography/mass spectrometry (SPME/GC/MS). New growth needles and leaf cushions do not resemble the previous year's growth either visually or in chemical composition until October/November, when the adelgid breaks estivation and begins feeding. Nearly all of the 23 terpenoids present exceeding 0.1% varied significantly either temporally or spatially, usually with complex interactions. Ordination and factor analysis revealed that terpenoids are less variable in mature leaf cushions than in young tissue. By entering a nonfeeding diapause during the late spring and summer, HWA avoids the unstable, variable levels of terpenoids in the immature leaf cushion and needles.