The Mass-Luminosity Relation in the L/T Transition:Individual Dynamical Masses for the New J-Band Flux Reversal Binary SDSSJ105213.51+442255.7AB

We have discovered that SDSSJ105213.51+442255.7 (T0.5$\pm$1.0) is a binary in Keck laser guide star adaptive optics imaging, displaying a large J-to-K-band flux reversal ($\Delta$J = -0.45$\pm$0.09 mag, $\Delta$K = 0.52$\pm$0.05 mag). We determine a total dynamical mass from Keck orbital monitoring (88$\pm$5 $M_{\rm Jup}$) and a mass ratio by measuring the photocenter orbit from CFHT/WIRCam absolute astrometry ($M_B/M_A$ = 0.78$\pm$0.07). Combining these provides the first individual dynamical masses for any field L or T dwarfs, 49$\pm$3 $M_{\rm Jup}$ for the L6.5$\pm$1.5 primary and 39$\pm$3 $M_{\rm Jup}$ for the T1.5$\pm$1.0 secondary. Such a low mass ratio for a nearly equal luminosity binary implies a shallow mass$-$luminosity relation over the L/T transition ($\Delta$log$L_{\rm bol}$/$\Delta$log$M = 0.6^{+0.6}_{-0.8}$). This provides the first observational support that cloud dispersal plays a significant role in the luminosity evolution of substellar objects. Fully cloudy models fail our coevality test for this binary, giving ages for the two components that disagree by 0.2 dex (2.0$\sigma$). In contrast, our observed masses and luminosities can be reproduced at a single age by "hybrid" evolutionary tracks where a smooth change from a cloudy to cloudless photosphere around 1300 K causes slowing of luminosity evolution. Remarkably, such models also match our observed JHK flux ratios and colors well. Overall, it seems that the distinguishing features SDSSJ1052+4422AB, like a J-band flux reversal and high-amplitude variability, are normal for a field L/T binary caught during the process of cloud dispersal, given that the age (1.11$^{+0.17}_{-0.20}$ Gyr) and surface gravity (log$g$ = 5.0$-$5.2) of SDSSJ1052+4422AB are typical for field ultracool dwarfs.Comment: Accepted to ApJ; 33 pages, 8 figures, 5 table

Individual Dynamical Masses of Ultracool Dwarfs

We present the full results of our decade-long astrometric monitoring programs targeting 31 ultracool binaries with component spectral types M7-T5. Joint analysis of resolved imaging from Keck Observatory and Hubble Space Telescope and unresolved astrometry from CFHT/WIRCam yields parallactic distances for all systems, robust orbit determinations for 23 systems, and photocenter orbits for 19 systems. As a result, we measure 38 precise individual masses spanning 30-115 $M_{\rm Jup}$. We determine a model-independent substellar boundary that is $\approx$70 $M_{\rm Jup}$ in mass ($\approx$L4 in spectral type), and we validate Baraffe et al. (2015) evolutionary model predictions for the lithium-depletion boundary (60 $M_{\rm Jup}$ at field ages). Assuming each binary is coeval, we test models of the substellar mass-luminosity relation and find that in the L/T transition, only the Saumon & Marley (2008) "hybrid" models accounting for cloud clearing match our data. We derive a precise, mass-calibrated spectral type-effective temperature relation covering 1100-2800 K. Our masses enable a novel direct determination of the age distribution of field brown dwarfs spanning L4-T5 and 30-70 $M_{\rm Jup}$. We determine a median age of 1.3 Gyr, and our population synthesis modeling indicates our sample is consistent with a constant star formation history modulated by dynamical heating in the Galactic disk. We discover two triple-brown-dwarf systems, the first with directly measured masses and eccentricities. We examine the eccentricity distribution, carefully considering biases and completeness, and find that low-eccentricity orbits are significantly more common among ultracool binaries than solar-type binaries, possibly indicating the early influence of long-lived dissipative gas disks. Overall, this work represents a major advance in the empirical view of very low-mass stars and brown dwarfs.Comment: ApJS, in press. This arxiv posting contains all figures (111 pages) and tables (107 pages). Updated version contains additional acknowledgments and references and corrects typo

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4−/− mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives

Perinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e.g., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal HPP is associated with a broad spectrum of imaging findings that are characteristic of but do not occur in all cases of HPP and are not unique to HPP, such as shortening, bowing and angulation of the long bones, and slender, poorly ossified ribs and metaphyseal lucencies. Conversely, absent ossification of whole bones is characteristic of severe lethal HPP and is associated with very few other conditions. Certain features may help distinguish HPP from other skeletal dysplasias, such as sites of angulation of long bones, patterns of hypomineralization, and metaphyseal characteristics. In utero recognition of HPP allows for the assembly and preparation of a multidisciplinary care team before delivery and provides additional time to devise treatment strategies

Correlations of genotype and phenotype in hypophosphatasia

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