Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

Marakhonov, Andrey V.; Коновалов, Ф. А.; Makaov, A. Kh.; Vasilyeva, T.A.; Кадышев, В. В.; Галкина, В. А.; Дадали, Е. Л.; Куцев, С. И.; Зинченко, Р. А.

doi:10.1186/s12920-018-0326-1

Cited by 14 publications

(11 citation statements)

References 21 publications

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“…In addition to RHDs that are frequent for all populations of the Russian Federation and Europe, regionally specific diseases have been identified. Our study identified diseases endemic to specific regions of the Russian Federation-several types of hypotrichosis (Kazantseva et al, 2006;Zernov et al, 2016), osteopetrosis (Bliznetz et al, 2009), and a number of RDs identified in the Russian Federation and worldwide in single cases-primary microcephaly (Marakhonov et al, 2018), gnathodiaphyseal dysplasia (Andreeva et al, 2016), metatropic dysplasia (Timkovskaya et al, 2016), etc.…”

Section: Resultsmentioning

confidence: 98%

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Зинченко

Marakhonov

et al. 2021

Front. Genet.

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The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid progress of genetic technology, the identification of thousands of genes, and the resulting problems in society. This work provides an epidemiological analysis of the groups of the most common RHDs (autosomal dominant, autosomal recessive, and X-linked) and their point prevalence (PP) and describes the structure of RHD diversity by medical areas in 14 spatially remote populations of the European part of Russia. The total size of the examined population is about 4 million. A total of 554 clinical forms of RHDs in 10,265 patients were diagnosed. The CP for all RHDs per sample examined was 277.21/100,000 (1:361 people). It is worth noting that now is the time for characterizing the accumulated data on the point prevalence of RHDs, which will help to systematize our knowledge and allow us to develop a strategy of care for patients with RHDs. However, it is necessary to address the issues of changing current medical classifications and coding systems for nosological forms of RHDs, which have not kept pace with genetic advances.

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Section: Resultsmentioning

confidence: 98%

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Зинченко

Marakhonov

et al. 2021

Front. Genet.

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“…Numerous studies have shown that the frequencies of Mendelian diseases and different pathogenic variants can vary significantly among different regions of Russia [35][36][37][38][39][40][41][42]. Although Russians are the major ethnic group in Russia (111 million out of the total population of 146 million), there is a significant number of indigenous ethnic populations living for hundreds of years in their historical locations (over 200 different ethnicities and ethnic groups, according to the 2010 Census) unevenly dispersed across the vast territory of Russia [34].…”

Section: Discussionmentioning

confidence: 99%

A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia

et al. 2020

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The absence of comparable epidemiological data challenges the correct estimation of the prevalence of congenital hearing loss (HL) around the world. Sign language (SL) is known as the main type of communication of deaf people. We suggest that the distribution of SL can be interpreted as an indirect indicator of the prevalence of congenital HL. Since a significant part of congenital HL is due to genetic causes, an assessment of the distribution of SL users can reveal regions with an extensive accumulation of hereditary HL. For the first time, we analyzed the data on the distribution of SL users that became available for the total population of Russia by the 2010 census. Seventy-three out of 85 federal regions of Russia were ranked into three groups by the 25th and 75th percentiles of the proportion of SL users: 14 regions—“low proportion”; 48 regions—“average proportion”; and 11 regions—“high proportion”. We consider that the observed uneven prevalence of SL users can reflect underlying hereditary forms of congenital HL accumulated in certain populations by specific genetic background and population structure. At least, the data from this study indicate that the highest proportions of SL users detected in some Siberian regions are consistent with the reported accumulation of specific hereditary HL forms in indigenous Yakut, Tuvinian and Altaian populations.

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“…In the Circassian family with primary microcephaly and mental retardation type 5, NGS sequencing revealed a novel homozygous single nucleotide deletion NM_018136.4 (ASPM):c.1386delC leading to a preterm stop codon formation. A population analysis (202 chromosomes from healthy Circassians) shows that the population frequency of the c.1386delC variant is less than 0.005 [22].…”

Section: Genetic Heterogeneity (Allelic Locus) Of Monogenic Hereditamentioning

confidence: 99%

“…Polyakov). Variety of methods were used for DNA diagnosis-Sanger sequencing, MLPA, RFLP, AFLP, whole exome sequencing-Depending on the studied nosology according to the protocols published elsewhere by the authors of current manuscript [19][20][21][22][23].…”

Section: Molecular Genetic Analysismentioning

confidence: 99%

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

Зинченко

Makaov²,

Marakhonov

et al. 2020

IJMS

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Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in different human populations. Current knowledge of HDs distribution in populations is generally limited to either European data or analyses of isolated populations which were performed several decades ago. Thus, an acknowledgement of the HDs prevalence in different modern open populations is important. The study presents the results of a genetic epidemiological study of hereditary diseases (HDs) in the population of the Karachay-Cherkess Republic (KChR). Clinical screening of a population of 410,367 people for the identification of HDs was conducted. The population surveyed is represented by five major ethnic groups—Karachays, Russians, Circassians, Abazins, Nogais. The study of the populations was carried out in accordance with the proprietary protocol of genetic epidemiological examination designed to identify >3500 HDs easily diagnosed during clinical examination by qualified specialists specializing in the HDs. The protocol consists of the population genetic and medical genetic sections and is intended for comprehensive population analysis based on the data on different genetic systems, including the genes of HDs, DNA polymorphisms, demographic data collected during hospital-based survey. 8950 families (with 10,125 patients) with presumably the HDs were initially identified as a result of the survey and data collection through various sources of registration (from 1156 medical workers from 163 medical institutions). A diagnosis of hereditary pathology was established in 1849 patients (from 1295 families). Two hundred and thirty nosological forms were revealed (in 1857 patients from 1295 families). The total prevalence of HDs was 1:221. Differences between populations and ethnic groups were identified: 1:350 in Russians, 1:195 in Karachays, 1:199 in Circassians, 1:218 in Abazins, 1:135 in Nogais. Frequent diseases were determined, the presence of marked genetic heterogeneity was identified during the confirmatory DNA diagnosis. To explain the reasons for the differentiation of populations by load of HD, a correlation analysis was carried out between the FST (random inbreeding) in populations and HDs load values. This analysis showed genetic drift is probably one of the leading factors determining the differentiation of KChR populations by HDs load. For the first time, the size of the load and spectrum of HDs in the populations of the KChR are determined. We have demonstrated genetic drift to be one of the main factors of the population dynamics in studied population. A significant genetic heterogeneity of HDs, both allelic and locus, was revealed in KChR.

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Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

Cited by 14 publications

References 21 publications

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

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