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Objective To identify the causative variants in 5 Chinese families with tuberous sclerosis complex (TSC) to provide genetic counseling and prenatal diagnosis. Methods Genetic counseling and clinical diagnosis were performed in 8 patients from five unrelated TSC families by teleconsultation. With informed consent obtained from the participants, 3 to 5 mL peripheral blood samples were collected from the probands and their family members for the extraction of genomic DNA. Candidate pathogenic variants were screened by panel sequencing (PS). The candidate pathogenic variants found in TSC1 and TSC2 by PS were validated by PCR-Sanger sequencing and bioinformatics analysis. Results All the pathogenic mutations were identified in the probands and their available family members. Causative variants in TSC1 or TSC2 were detected in all patients, including three reported variants and two novel variants. The two novel variants, TSC2:c.245G＞ A and TSC2: c.235delG, which were predicted to cause the nonsense variant p.(Trp82*) and the frameshift variant p.(Val79Lysfs27*) respectively was believed to introduce premature stop codons. The analysis of family co-segregation and bioinformatics were identified as very positive factors for pathogenicity. Conclusions This result provides more evidences for the genetic counseling and prenatal diagnosis in these families and expand the spectrum of TSC2 pathogenic variants. [ABSTRACT FROM AUTHOR]

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Copyright of Journal of Henan University of Technology Natural Science Edition is the property of Henan University of Technology Journal Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Helium variations are common features of globular clusters (GCs) with multiple stellar populations. All the formation scenarios predict that secondary population stars are enhanced in helium, but the exact helium content depends on the polluters. Therefore, searching for helium variations in a star cluster is a straightforward method to understand whether it hosts multiple populations or not and to constrain the formation scenario. Although this topic has been well explored for Galactic GCs, GCs beyond the Milky Way are challenging to study because of their large distances. This work studies the helium distribution of GK-type main-sequence (MS) dwarfs in an old (∼12.5 Gyr) GC in the Large Magellanic Cloud, NGC 2210, using the deep photometry observed by the Hubble Space Telescope. We compare the observed morphology of the MS with that of synthetic populations with different helium distributions. We confirm that NGC 2210 dwarfs have a helium spread, with an internal dispersion of δ Y ∼ 0.06–0.07. The fraction of helium-enriched stars depends on the δ Y distribution. A continuous δ Y distribution would indicate that more than half of MS stars are helium enriched (∼55%). If the δ Y distribution is discrete (bimodal), a fraction of ∼30% enriched stars is able to explain the observed morphology of the MS. We also find that the He-enriched population stars are more centrally concentrated than He-normal stars. [ABSTRACT FROM AUTHOR]