Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G&gt;A in GJB2 gene as a result of founder effect

Barashkov, Nikolay A.; Dzhemileva, Lilya U.; Fedorova, Sardana A.; Teryutin, Fedor M.; Posukh, Olga L.; Fedotova, Elvira E.; Лобов, С. Л.; Хуснутдинова, Э. К.

doi:10.1038/jhg.2011.72

Cited by 45 publications

(54 citation statements)

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“…It should be noted that different results have been reported in various population, i.e. the frequency of this mutation in Turkey, Croatia, China, India, Palestine, Brazil, Yakut population in Sakha Republic (Russian Federation), Hungry and Argentina 1.4%, 0.9%, 1.89%, 5%, 1%, 4.6%, 11.7%, 23.4%, 3% is reported respectively [5,13,14,16,17,19,[24][25][26]. In Iran few studies have been reported but the reported results are noticeable and the spectrum varies between 0.2% and 9.4% [1,22].…”

Section: Discussionmentioning

confidence: 84%

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Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL)

Bonyadi

Fotouhi

Esmaeili

2011

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 84%

“…Recently it is found that the IVS1+1G>A is the main mutated allele for GJB2 in Yakut Population, located in Eastern Siberia (Russian federation), where the large number of the Yakut population were homozygous for IVS1+1G>A mutation [24]. It should be noted that different results have been reported in various population, i.e.…”

Section: Discussionmentioning

confidence: 98%

Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL)

Bonyadi

Fotouhi

Esmaeili

2011

International Journal of Pediatric Otorhinolaryngology

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“…High rates of IVS1+1G>A mutation (2–11.7%) were found among some indigenous populations of Eastern Siberia, Russia (Yakuts, Dolgans, Evenks and Evens), with the highest carrier frequency (11.7%) in isolated Yakut population [17]. The genetic data revealed a relatively small size of Yakut ancestor population and the strong bottleneck effect in the Yakut paternal line (80% of Y chromosomes of Yakuts belong to one haplogroup – N1c) [18]–[21].…”

Section: Introductionmentioning

confidence: 99%

Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia

Barashkov

Teryutin

Pshennikova³

et al. 2014

PLoS ONE

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Age-Related Hearing Impairment (ARHI) is one of the frequent sensory disorders registered in 50% of individuals over 80 years. ARHI is a multifactorial disorder due to environmental and poor-known genetic components. In this study, we present the data on age-related hearing impairment of 48 heterozygous carriers of mutation IVS1+1G>A (GJB2 gene) and 97 subjects with GJB2 genotype wt/wt in the Republic of Sakha/Yakutia (Eastern Siberia, Russia). This subarctic territory was found as the region with the most extensive accumulation of mutation IVS1+1G>A in the world as a result of founder effect in the unique Yakut population isolate. The GJB2 gene resequencing and detailed audiological analysis in the frequency range 0.25, 0.5, 1.0, 2.0, 4.0, 8.0 kHz were performed in all examined subjects that allowed to investigate genotype-phenotype correlations between the presence of single mutation IVS1+1G>A and hearing of subjects from examined groups. We revealed the linear correlation between increase of average hearing thresholds at speech frequencies (PTA0.5,1.0,2.0,4.0 kHz) and age of individuals with GJB2 genotype IVS1+1G>A/wt (rs = 0.499, p = 0.006860 for males and rs = 0.427, p = 0.000277 for females). Moreover, the average hearing thresholds on high frequency (8.0 kHz) in individuals with genotype IVS1+1G>A/wt (both sexes) were significantly worse than in individuals with genotype wt/wt (p<0.05). Age of hearing loss manifestation in individuals with genotype IVS1+1G>A/wt was estimated to be ∼40 years (rs = 0.504, p = 0.003). These findings demonstrate that the single IVS1+1G>A mutation (GJB2) is associated with age-related hearing impairment (ARHI) of the IVS1+1G>A carriers in the Yakuts.

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“…Идентифицировано несколько «главных», мажорных, рецессивных мутаций этого гена, преобладающих в той или иной популяции. Так, например, мутация c.35delG широко распространена в Европе Rabionet et al, 2000); мутация c.235delC -в ряде азиатских стран (Park et al, 2000;Liu et al, 2002;Ohtsuka et al, 2003, Dai et al, 2009); c.167delT характерна для евреев ашкенази (Morell et al, 1998;Lerer et al, 2000); p.Arg143Trp -для некоторых популяций Западной Африки (Brobby et al, 1998;Hamelmann et al, 2001); p.Val37Ile имеет большую распространенность в Юго-Восточной Азии (Wattanasirichaigoon et al, 2004); p.Trp24* -в Индии (RamShankar et al, 2003); c.-23+1G >A -у якутов (Barashkov et al, 2011;Пшенникова и др., 2015), а мутация p.Trp172Cys с высокой частотой выявляется у тувинцев (Бады-Хоо и др., 2014а).…”

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Impact of socio-demographic structure of the deaf people communities in prevalence of hereditary hearing loss

Posukh¹,

Бады-Хоо²,

Zytsar³

et al. 2016

Vestn. VOGiS

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Hearing loss caused by environmental or genetic factors concerns more than 10 % of the world population. It leads to disability and considerably reduces the life quality of deaf people. On average, 1 in 1,000 newborns are born deaf, and 50-60 % of cases are due to genetic causes. Nonsyndromic hereditary deafness is a monogenic disease with uniquely high genetic heterogeneity. The prevalence of some forms of genetic deafness varies in different populations and could be determined, as for many other genetic diseases, by the ethnic composition of a population, isolation, founder and «bottleneck» effects, the proportion of consanguineous marriages, and probable heterozygote advantage. It is assumed that high prevalence of hearing loss due to mutations in the GJB2 (Cx26) gene was also influen ed by some social factors: a long-standing tradition of assortative marriages between deaf people, combined with growth of their social adaptation and genetic fitnes . The start for these events was the breakdown of the deep social isolation of deaf people, which occurred about 300 years ago in Europe, and later in the US, when special schools for the deaf with learning sign language as a common tool for communication were established (linguistic homogamy). Computer simulations and comparative retrospective study showed that over the past 200 years these social processes can have doubled the frequency of deafness in the US caused by Потеря слуха, обусловленная как средовыми, так и генетическими причинами, в той или иной степени затрагивает более чем 10 % населения мира, приводит к инвалидности и существенно снижает качество жизни глухих людей. В среднем 1 из 1 000 новорожденных рождается глухим, и в 50-60 % случаев патология имеет генетическую причину. Несиндромальная наследственная потеря слуха -моногенное заболевание с уникально высокой генетической гетерогенностью. Частота форм «генетической глухоты» варьирует в разных регионах мира и может определяться, как и для многих других моногенных заболеваний, этническим составом населения, изоляцией, эффектами основателя и «буты лочного горлышка», долей близкородственных браков, возмож ным селективным преимуществом гетерозигот. Предполагается, что в распространенности наиболее частой генетической формы потери слуха, обусловленной мутациями гена GJB2 (Сx26), важную роль играли и определенные социальные факторы: долговременная традиция заключения ассортативных браков между глухими людьми в сочетании с ростом их социальной адаптации и биологической приспособленности (genetic fitness). тартом для этих событий явился «прорыв» глубокой социальной изоляции глухих людей, произошедший около 300 лет назад, когда в Европе (а позднее и в США) возникли школы для глухих с обучением жестовому языку как единому средству коммуника ции (лингвистическая гомогамия). Компьютерное моделирование и сравнительное ретроспективное исследование показали, что в США за 200-летний период эти социальные процессы могли привести к удвоению частоты глухоты, обусловленной мутациями гена GJB2. Сведения о социально-демогр...

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Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

Cited by 45 publications

References 42 publications

Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL)

Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL)

Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia

Impact of socio-demographic structure of the deaf people communities in prevalence of hereditary hearing loss

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