The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation

Balashova, M.S.; Tuluzanovskaya, I.G.; Glotov, Oleg S.; Glotov, Andrey S.; Barbitoff, Yury A.; Fedyakov, Mikhail A.; Alaverdian, Diana; Иващенко, Т. Э.; Романова, О. В.; Sarana, Andrey М.; Scherbak, Sergey G.; Baranov, V. S.; Filimonov, M I; Skalny, Anatoly V.; Жученко, Н. А.; Ignatova, T M; Asanov, A. Yu.

doi:10.1016/j.jtemb.2019.126420

Cited by 11 publications

(5 citation statements)

References 37 publications

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“…Out of 22 disease-associated variants that were identified in (Barbitoff et al 2019;Ramensky et al 2021) we confirmed overrepresentation of 18 variants (81.8%), and identified many novel pathogenic alleles that have greater incidence in the Russian Federation compared to other European populations (gnomAD NFE group). For several of the identified variants, their increased prevalence in Russia has been noted in gene-level studies (Abramov et al 2015;Balashova et al 2020). For other variants, such as the rs554847663 variant in OTOG, no previous reports were published.…”

Section: Discussionmentioning

confidence: 94%

“…The following capture kits were used: Agilent SureSelect Human all exon V7, Agilent SureSelect Human all exon V6 + UTR, TruSeq DNA Exome (Illumina) with the xGen® Exome Research Panel v1.0 (IDT) exome capture solution, Nimblegen (Roche) SeqCap EZ MedExome, Illumina Nextera RapidCapture, Illumina TruSeq DNA Exome, Nimblegen (Roche) Inherited Disease Panel (IDP) v2, and Illumina TruSight One. Exome libraries were prepared as described previously (Barbitoff et al 2019; 2020). All libraries were sequenced using Illumina HiSeq 2500/4000, Illumina NovaSeq 6000, MiSeq, or MGISEQ 2000.…”

Section: Methodsmentioning

confidence: 99%

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Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

Barbitoff

Khmelkova²,

Pomerantseva³

et al. 2021

Preprint

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The frequency of a genetic variant in a population is crucially important for accurate interpretation of known and novel variant effects in medical genetics. Recently, several large allele frequency databases, such as Genome Aggregation Database (gnomAD), have been created to serve as a global reference for such studies. However, frequencies of many rare alleles vary dramatically between populations, and population-specific allele frequency can be more informative than the global one. Many countries and regions (including Russia) remain poorly studied from the genetic perspective. Here, we report the first successful attempt to integrate genetic information between major medical genetic laboratories in Russia. We construct an expanded reference set of genetic variants by analyzing 6,096 exome samples collected in two major Russian cities of Moscow and St. Petersburg. An approximately tenfold increase in sample size compared to previous studies allowed us to identify genetically distinct clusters of individuals within an admixed population of Russia. We show that up to 18 known pathogenic variants are overrepresented in Russia compared to other European countries. We also identify several dozen high-impact variants that are present in healthy donors despite either being annotated as pathogenic in ClinVar or falling within genes associated with autosomal dominant disorders. The constructed database of genetic variant frequencies in Russia has been made available to the medical genetics community through a variant browser available at http://ruseq.ru.

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Section: Discussionmentioning

confidence: 94%

Section: Methodsmentioning

confidence: 99%

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

Barbitoff

Khmelkova²,

Pomerantseva³

et al. 2021

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

“…When it comes to comparing ours with other studies which analyse diagnostic delay by reference to symptom onset [ 33 , 34 ], it should be borne in mind that our study follows the IRDiRC indications, by establishing the date of first medical visit in order to ascertain the delay [ 11 ]. Similarly, it should be stressed that this study also furnished data on time elapsed from symptom onset.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay

Benito-Lozano

Arias-Merino

Gómez-Martínez

et al. 2022

IJERPH

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Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as “diagnostic delay”). We conducted a case–control study, using a purpose-designed form from the Spanish Rare Diseases Patient Registry for data-collection purposes. A descriptive analysis was performed and multivariate backward logistic regression models fitted. Based on data on 1216 patients living with RDs, we identified a series of determinants associated with experiencing diagnostic delay. These included: having to travel to see a specialist other than that usually consulted in the patient’s home province (OR 2.1; 95%CI 1.6–2.9); visiting more than 10 specialists (OR 2.6; 95%CI 1.7–4.0); being diagnosed in a region other than that of the patient’s residence at the date of symptom onset (OR 2.3; 95%CI 1.5–3.6); suffering from a RD of the nervous system (OR 1.4; 95%CI 1.0–1.8). In terms of time taken to see a specialist, waiting more than 6 months to be referred from the first medical visit was the period of time which most contributed to diagnostic delay (PAR 30.2%). In conclusion, this is the first paper to use a collaborative study based on a nationwide registry to address the diagnostic process of patients living with RDs. While the evidence shows that the diagnostic process experienced by these persons is complex, more studies are needed to determine the implications that this has for their lives and those of their families at a social, educational, occupational, psychological, and financial level.

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“…Regarding genetic variation, affected patients carrying an identical genotype in different families or even within the same family present extensive variation in hepatic and neurological manifestations [ 4 , [8] , [9] , [10] , [11] , [12] , [13] , [14] ]. It is unknown why a particular genotype is not associated with a specific behavior of the disease.…”

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

The mutation spectrum and ethnic distribution of Wilson disease, a review

Beyzaei,

Mehrzadeh,

Hashemi

et al. 2024

Molecular Genetics and Metabolism Reports

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The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation

Cited by 11 publications

References 37 publications

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay

The mutation spectrum and ethnic distribution of Wilson disease, a review

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