Marital Structure, Genetic Fitness, and the GJB2 Gene Mutations among Deaf People in Yakutia (Eastern Siberia, Russia)

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

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GJB2 Gene Mutations in Childhood Deafness

Acta Oto-Laryngologica ◽

10.1080/000164800750000766 ◽

2000 ◽

Vol 120 (2) ◽

pp. 133-136 ◽

Cited By ~ 10

Author(s):

Simón Angeli, René Utrera, Samar Di

Keyword(s):

Gene Mutations ◽

Gjb2 Gene ◽

Childhood Deafness

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The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2019.05.036 ◽

2019 ◽

Vol 124 ◽

pp. 157-160 ◽

Cited By ~ 3

Author(s):

Sonia Talbi ◽

Crystel Bonnet ◽

Farid Boudjenah ◽

Mohammed Tahar Mansouri ◽

Christine Petit ◽

...

Keyword(s):

Hearing Loss ◽

Gene Mutations ◽

Gjb2 Gene ◽

Nonsyndromic Hearing Loss

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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

Journal of Human Genetics ◽

10.1038/jhg.2011.72 ◽

2011 ◽

Vol 56 (9) ◽

pp. 631-639 ◽

Cited By ~ 20

Author(s):

Nikolay A Barashkov ◽

Lilya U Dzhemileva ◽

Sardana A Fedorova ◽

Fedor M Teryutin ◽

Olga L Posukh ◽

...

Keyword(s):

Splice Site ◽

Founder Effect ◽

Autosomal Recessive ◽

Splice Site Mutation ◽

Gjb2 Gene ◽

Eastern Siberia ◽

Site Mutation ◽

Yakut Population

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Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province

The Journal of Laryngology & Otology ◽

10.1017/s0022215116008689 ◽

2016 ◽

Vol 130 (10) ◽

pp. 902-906 ◽

Cited By ~ 1

Author(s):

L Shi ◽

J Chen ◽

J Li ◽

X Wei ◽

X Gao

Keyword(s):

Hearing Loss ◽

Cochlear Implant ◽

Gene Mutation ◽

Cochlear Implantation ◽

Gene Mutations ◽

Jiangsu Province ◽

Gjb2 Gene ◽

Novel Mutations ◽

Pathogenic Mutations

AbstractObjective:GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China. Pre-lingual deafness is a sensorineural disorder that can only be treated with cochlear implantation.Method:The prevalence of GJB2 gene mutations was examined in 330 randomly selected patients treated with cochlear implantation.Results:Overall, 276 patients (83.64 per cent) carried variations in the GJB2 gene. Seventeen different genotypes were identified, including 10 confirmed pathogenic mutations (c.235delC, c.299delAT, c.176del16, p.E47X, p.T123N, p.V167M, p.C218Y, p.T86R, p.V63L and p.R184Q), 3 polymorphisms (p.V27I, p.E114 G and p.I203 T) and 2 unidentified mutations (p.V37I and c.571 T > C).Conclusion:A total of 103 patients (31.2 per cent) carried 2 confirmed pathogenic mutations. The frequency of c.235delC was higher than that reported previously in the Jiangsu province. The two novel mutations identified, 69C > G and 501G > A, are likely to be polymorphisms.

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Genetic examination of children with hearing impairment in the astrakhan region

Russian otorhinolaryngology ◽

10.18692/1810-4800-2020-5-44-50 ◽

2020 ◽

Vol 19 (5) ◽

pp. 44-50

Author(s):

E. A. Grigor’eva ◽

◽

E. A. Ivanova ◽

T. G. Markova ◽

S. S. Chibisova ◽

...

Keyword(s):

Hearing Impairment ◽

Russian Federation ◽

Single Gene ◽

Gene Mutations ◽

Ethnic Composition ◽

Gjb2 Gene ◽

Compound Heterozygous ◽

Recessive Mutations ◽

Genetic Examination ◽

The Russian Federation

To study the prevalence of mutations in the GJB2 gene in deaf and deaf children in the Astrakhan region and compare them with the frequency of mutations in children with hearing impairment living in other regions of the Russian Federation taking into account regional characteristics. This work describes the results of epidemiological, audiological analysis, medical and genetic examination of children. We examined 6 frequent recessive mutations in the GJB2 gene in a group of 79 hearing impaired children registered with the Regional Center for Hearing Rehabilitation. Mutations were detected in 36 children (46%), with two mutations found only in 18 children (23%), and another 18 children were carriers of the same mutation. In 9 children (11.5%), the 35 delG mutation was detected in the homozygous state and in 9 children (11.5%) in the compound heterozygous state with a different mutation. We have shown that the results obtained do not correspond to the high prevalence of gene mutations (more than 50%) in groups of children with hearing impairment, established in most regions of the Russian Federation, as well as in several countries in Europe, China and Japan. The large number of carriers of a single gene mutation indicates the need to study the entire gene sequence and may be a consequence of the mixed ethnic composition of the subjects.

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