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Stars with unusual properties can provide a wealth of information about rare stages of stellar evolution and exotic physics. However, determining the true nature of peculiar stars is often difficult. In this work, we conduct a systematic search for cool and luminous stars in the Magellanic Clouds with extreme variability, motivated by the properties of the unusual Small Magellanic Cloud star and Thorne–Żytkow Object (TŻO) candidate HV 2112. Using light curves from ASAS-SN, we identify 38 stars with surface temperatures T < 4800 K, luminosities (L/L⊙) > 4.3, variability periods >400 days, and variability amplitudes ΔV > 2.5 mag. Eleven of these stars possess the distinctive double-peaked light-curve morphology of HV 2112. We use the pulsation properties and derived occurrence rates for these 12 objects to constrain their nature. From comparisons to stellar populations and models, we find that one star may be a red supergiant with large-amplitude pulsations. For the other 11 stars, we derive current masses of ∼5–10 M⊙, below the theoretical minimum mass of ∼15 M⊙ for TŻOs to be stable, casting doubt on this interpretation. Instead, we find that the temperatures, luminosities, mass-loss rates (MLRs), and periods of these stars are consistent with predictions for super-asymptotic giant branch (s-AGB) stars that have begun carbon burning but have not reached the superwind phase. We infer lifetimes in this phase of ∼(1–7) × 104 yr, also consistent with an s-AGB interpretation. If confirmed, these objects would represent the first identified population of s-AGB stars, illuminating the transition between low- and high-mass stellar evolution. [ABSTRACT FROM AUTHOR]

Abstract: A diagnosis of choroideraemia (CHM) can be made clinically, based on the fundus examination and a family history consistent with X-linked inheritance. Molecular genetic testing offers a means of confirming the clinical diagnosis, establishing carrier status and allows presymptomatic diagnosis for families who wish to pursue these options. The aim of this study was to examine the uptake and assess the results from a diagnostic molecular genetics service for CHM. We have carried out a comprehensive audit of all molecular genetic results of UK NHS patients and families referred to the North West Regional Molecular Genetics Laboratory in Manchester, UK over a 55 month period. 110 people were referred to this service for testing including diagnostic, carrier and predictive requests. Putative pathogenic mutations were identified in 65/83 (78%) of male index cases. The identification of a familial pathogenic change enabled carrier testing in 16 asymptomatic females and predictive testing in 3 males. Case examples illustrate the range of cases referred for testing and also reflect the need for genetic counselling that results from offering a molecular diagnostic service such as this. Clinical molecular testing for CHM is available clinically and can be used to support the clinical diagnosis and management of patients with choroideraemia as well as their families. Case studies demonstrate the need to provide genetic testing to families and the potential clinical utility of testing. [Copyright &y& Elsevier]

We present optical, ultraviolet, and infrared data of the type II supernova (SN II) 2020jfo at 14.5 Mpc. This wealth of multiwavelength data allows us to compare different metrics commonly used to estimate progenitor masses of SN II for the same object. Using its early light curve, we infer SN 2020jfo had a progenitor radius of ≈700 R ⊙, consistent with red supergiants of initial mass M ZAMS =11–13 M⊙. The decline in its late-time light curve is best fit by a 56Ni mass of 0.018 ± 0.007 M⊙ consistent with that ejected from SN II-P with ≈13 M⊙ initial mass stars. Early spectra and photometry do not exhibit signs of interaction with circumstellar matter, implying that SN 2020jfo experienced weak mass-loss within the final years prior to explosion. Our spectra at >250 d are best fit by models from 12 M⊙ initial mass stars. We analysed integral field unit spectroscopy of the stellar population near SN 2020jfo, finding its massive star population had a zero age main sequence mass of 9.7 |$\substack{+2.5\\ -1.3}~{\rm M}_{\odot }$|⁠. We identify a single counterpart in pre-explosion imaging and find it has an initial mass of at most |$7.2\substack{+1.2\\ -0.6}~{\rm M}_{\odot }$|⁠. We conclude that the inconsistency between this mass and indirect mass indicators from SN 2020jfo itself is most likely caused by extinction with AV  = 2–3 mag due to matter around the progenitor star, which lowered its observed optical luminosity. As SN 2020jfo did not exhibit extinction at this level or evidence for interaction with circumstellar matter between 1.6 and 450 d from explosion, we conclude that this material was likely confined within ≈3000  R ⊙ from the progenitor star. [ABSTRACT FROM AUTHOR]

Prader Willi and Angelman syndromes are clinically distinct genetic disorders both mapping to chromosome region 15q11-q13, which are caused by a loss of function of paternally or maternally inherited genes in the region, respectively. With clinical diagnosis often being difficult, particularly in infancy, confirmatory genetic diagnosis is essential to enable clinical intervention. However, the latter is challenged by the complex genetics behind both disorders and the unmet need for characterised reference materials to aid accurate molecular diagnosis. With this in mind, a panel of six genotyping reference materials for Prader Willi and Angelman syndromes was developed, which should be stable for many years and available to all diagnostic laboratories. The panel comprises three Prader Willi syndrome materials (two with different paternal deletions, and one with maternal uniparental disomy (UPD)) and three Angelman syndrome materials (one with a maternal deletion, one with paternal UPD or an epigenetic imprinting centre defect, and one with a UBE3A point mutation). Genomic DNA was bulk-extracted from Epstein-Barr virus-transformed lymphoblastoid cell lines established from consenting patients, and freeze-dried as aliquots in glass ampoules. In total, 37 laboratories from 26 countries participated in a collaborative study to assess the suitability of the panel. Participants evaluated the blinded, triplicate materials using their routine diagnostic methods against in-house controls or externally sourced uncertified reference materials. The panel was established by the Expert Committee on Biological Standardization of the World Health Organization as the first International Genetic Reference Panel for Prader Willi and Angelman syndromes. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding the case of a Caucasian Czech family diagnosed with x-linked retinitis pigmentosa caused by molecular genetic.

Fragile X syndrome is the most common inherited form of mental retardation. It is caused by expansion of a trinucleotide (CGG)n repeat sequence in the 5′ untranslated region of the FMR1 gene, resulting in promoter hypermethylation and suppression of FMR1 transcription. Additionally, pre-mutation alleles in carrier males and females may result in Fragile X tremor ataxia syndrome and primary ovarian insufficiency, respectively. Fragile X is one of the most commonly requested molecular genetic tests worldwide. Quality assessment schemes have identified a wide disparity in allele sizing between laboratories. It is therefore important that clinical laboratories have access to characterized reference materials (RMs) to aid accurate allele sizing and diagnosis. With this in mind, a panel of genotyping RMs for Fragile X syndrome has been developed, which should be stable over many years and available to all diagnostic laboratories. Immortalized cell lines were produced by Epstein-Barr virus transformation of lymphocytes from consenting patients. Genomic DNA was extracted in bulk and RM aliquots were freeze-dried in glass ampoules. Twenty-one laboratories from seventeen countries participated in a collaborative study to assess their suitability. Participants evaluated the samples (blinded, in triplicate) in their routine methods alongside in-house and commercial controls. The panel of five genomic DNA samples was endorsed by the European Society of Human Genetics and approved as an International Standard by the Expert Committee on Biological Standardization at the World Health Organization. [ABSTRACT FROM AUTHOR]

Protein Z-dependent protease inhibitor (ZPI) is a serpin that inhibits the activated coagulation factors X and XI. The precise physiological significance of ZPI in the control of haemostasis is unknown although a deficiency of ZPI may be predicted to alter this balance. The coding region of the ZPI gene was screened for mutations using denaturing high-performance liquid chromatography. 16 mutations/polymorphisms within the coding region of ZPI were identified including two mutations, which generated stop codons at residues R67 and W303. We observed nonsense mutations within the ZPI gene in 4·4% of thrombosis patients (n = 250) compared with 0·8% of controls (n = 250). The difference in distribution of stop codon mutations between thrombosis patients and controls was significant (P = 0·02) with an odds ratio of 5·7 (95% confidence interval, 1·25–26·0). Our results suggest an association between ZPI deficiency and venous thrombosis and we propose that ZPI deficiency is potentially a new form of thrombophilia. [ABSTRACT FROM AUTHOR]

A correction to the article "Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome" that was published in the August 25, 2010 issue is presented.