Large amplitude periodic outbursts and long period variables in the VVV VIRAC2-ββ database

© 2022 The Author(s) Published by Oxford University Press on behalf of the Royal Astronomical Society. This is the accepted manuscript version of an article which has been published in final form at https://doi.org/10.1093/mnras/stac768The VISTA Variables in the Via Lactea (VVV) survey obtained near-infrared photometry toward the Galactic bulge and the southern disc plane for a decade (2010 - 2019). We designed a modified Lomb-Scargle method to search for large-amplitude ($\Delta$Ks > 1.5 mag) mid to long-term periodic variables (P > 10 d) in the 2nd version of VVV Infrared Astrometric Catalogue (VIRAC2-$\beta$). In total, 1520 periodic sources were discovered, including 59 candidate periodic outbursting young stellar objects (YSOs), based on the unique morphology of the phase-folded light curves, proximity to Galactic HII regions and mid-infrared colours. Five sources are spectroscopically confirmed as accreting YSOs. Both fast-rise/slow-decay and slow-rise/fast-decay periodic outbursts were found, but fast-rise/slow-decay outbursts predominate at the highest amplitudes. The multi-wavelength colour variations are consistent with a variable mass accretion process, as opposed to variable extinction. The cycles are likely to be caused by dynamical perturbations from stellar or planetary companions within the circumstellar disc. An additional search for periodic variability amongst YSO candidates in published Spitzer-based catalogues yielded a further 71 candidate periodic accretors, mostly with lower amplitudes. These resemble cases of pulsed accretion but with unusually long periods and greater regularity. The majority of other long-period variables are pulsating dusty Miras with smooth and symmetric light curves. We find that some Miras have redder $W3 - W4$ colours than previously thought, most likely due to their surface chemical compositions.Peer reviewedFinal Accepted Versio

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran

Hearing loss (HL) is one of the most common sensory defects affecting more than 466 million individuals worldwide. It is clinically and genetically heterogeneous with over 120 genes causing non-syndromic HL identified to date. Here, we performed exome sequencing (ES) on a cohort of Iranian families with no disease-causing variants in known deafness-associated genes after screening with a targeted gene panel. We identified likely causal variants in 20 out of 71 families screened. Fifteen families segregated variants in known deafness-associated genes. Eight families segregated variants in novel candidate genes for HL: DBH, TOP3A, COX18, USP31, TCF19, SCP2, TENM1, and CARMIL1. In the three of these families, intrafamilial locus heterogeneity was observed with variants in both known and novel candidate genes. In aggregate, we were able to identify the underlying genetic cause of HL in nearly 30 of our study cohort using ES. This study corroborates the observation that high-throughput DNA sequencing in populations with high rates of consanguineous marriages represents a more appropriate strategy to elucidate the genetic etiology of heterogeneous conditions such as HL. © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Lt

Eur J Med Genet

Fragile X syndrome is the most common form of inherited mental retardation (MR). It is caused by the expansion of CGG triplet repeats in the fragile X mental retardation 1 (FMR1) gene. In mentally retarded males, the frequency of fragile X syndrome is approximately 2–3 percent, but little is known about its proportion in mentally retarded patients from countries where parental consanguinity is common. The objective of this study was to estimate the frequency of fragile X syndrome (FXS) in mentally retarded patients from Iran. We examined a total of 508 families with MR that had been referred to the Genetics Research Center (GRC) in Tehran of which 467 families had at least two mentally retarded children. In 384 families, the parents were related and in 124 they were not related of which most of them had putative or established X-linked inheritance pattern. Full FMR1 mutations were found in 32 of the 508 families studied (6.3%), in 19 out of 124 families with apparently unrelated parents (15.3%), and in 13 of the 384 consanguineous families (3.4%). Thus, in Iran, the relative frequency of FXS seems to be high, and in patients with unrelated parents is much higher. We also show that even in families with consanguineous parents, FXS has to be ruled out before assuming that familial MR is due to autosomal recessive gene defects. Molecular studies are in progress to explain the high proportion of FMR1 mutations in mentally retarded offspring of unrelated Iranian parents

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

Item does not contain fulltextOBJECTIVES: We investigated the cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) that segregated in 2 consanguineous Iranian families. METHODS: Otologic and audiometric examinations were performed on affected members of each family. Genome-wide parametric multipoint linkage mapping using a recessive model was performed with Affymetrix 50K GeneChips or short tandem repeat polymorphisms. Direct sequencing was used to confirm the causative mutation in each family. RESULTS: In 2 Iranian families, L-1651 and L-8600606, with ARNSHL that mapped to the DFNB7/11 locus, homozygosity for a reported splice site mutation (c.776+1G>A), and a novel deletion (c.1589_1590delCT; p.S530*) were identified in the TMC1 gene, respectively. CONCLUSIONS: Consistent with the previously reported phenotype in DFNB7/11 families, the 2 Iranian families had segregated congenital, profound hearing impairment. However, in family L-1651, one affected family member (IV:3) has milder hearing impairment than expected, suggesting a potential genetic modifier effect. These results indicate that DFNB7/11 is a common form of genetic hearing loss in Iran, because this population is the source of 6 of the 29 TMC1 mutations reported worldwide.1 december 201

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Background Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing loss (NSHL). This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed deafness-causing genes. Design Using a custom targeted genomic enrichment (TGE) panel, we simultaneously interrogated all known genetic causes of NSHL in a cohort of 302 GJB2- negative Iranian families. Results We established a genetic diagnosis for 67 of probands and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15. As a reflection of the power of consanguinity mapping, 26 genes were identified as causative for NSHL in the Iranian population for the first time. In total, 179 deafness-causing variants were identified in 40 genes in 201 probands, including 110 novel single nucleotide or small insertion-deletion variants and three novel CNV. Several variants represent founder mutations. Conclusion This study attests to the power of TGE and massively parallel sequencing as a diagnostic tool for the evaluation of hearing loss in Iran, and expands on our understanding of the genetics of HHL in this country. Families negative for variants in the genes represented on this panel represent an excellent cohort for novel gene discovery

The VISTA Variables in the Vía Láctea eXtended (VVVX) ESO public survey: Completion of the observations and legacy

Context. The ESO public survey VISTA Variables in the Vía Láctea (VVV) surveyed the inner Galactic bulge and the adjacent southern Galactic disk from 2009−2015. Upon its conclusion, the complementary VVV eXtended (VVVX) survey has expanded both the temporal as well as spatial coverage of the original VVV area, widening it from 562 to 1700 sq. deg., as well as providing additional epochs in JHKs filters from 2016−2023. Aims. With the completion of VVVX observations during the first semester of 2023, we present here the observing strategy, a description of data quality and access, and the legacy of VVVX. Methods. VVVX took ∼ 2000 hours, covering about 4% of the sky in the bulge and southern disk. VVVX covered most of the gaps left between the VVV and the VISTA Hemisphere Survey (VHS) areas and extended the VVV time baseline in the obscured regions affected by high extinction and hence hidden from optical observations. Results. VVVX provides a deep JHKs catalogue of & 1.5 × 109 point sources, as well as a Ks band catalogue of ∼ 107 variable sources. Within the existing VVV area, we produced a 5D map of the surveyed region by combining positions, distances, and proper motions of well-understood distance indicators such as red clump stars, RR Lyrae, and Cepheid variables. Conclusions. In March 2023 we successfully finished the VVVX survey observations that started in 2016, an accomplishment for ESO Paranal Observatory upon 4200 hours of observations for VVV+VVVX. The VVV+VVVX catalogues complement those from the Gaia mission at low Galactic latitudes and provide spectroscopic targets for the forthcoming ESO high-multiplex spectrographs MOONS and 4MOST