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J Hum Genet. 2017 Aug;62(8):789-795. doi: 10.1038/jhg.2017.42. Epub 2017 Apr 13.

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

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The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia.
Federal Medical and Biological Agency, Federal State-Funded Institution of Science, National Research Center for Audiology and Hearing Rehabilitation, Moscow, Russia.
The Russian Academy of Sciences, Federal State-Funded Institution of Science, Vavilov Institute of General Genetics, Moscow, Russia.
The Ministry of Health, Federal State-Funded Educational Institution of Higher Education, Kuban State Medical University, Krasnodar, Russia.
The Ministry of Health, State Budgetary Healthcare Institution, Clinical-Diagnostic Center of Mother and Child Health Protection, Yekaterinburg, Russia.
State Autonomous Healthcare Institution, Regional Clinical Center of Specialized Medical Care, Vladivostok, Russia.
The Ministry of Health, State Budgetary Healthcare Institution, Leningrad Regional Clinical Hospital, Saint Petersburg, Russia.
Federal State Budgetary Educational Institution of Higher Education, Saint Petersburg University, Saint Petersburg, Russia.


Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss includes GJB2 sequencing and DFNB1 deletion analysis for two common large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854). Here, we report frequency in Russia, clinical significance and evolutionary origins of a 101 kb deletion, del(GJB2-D13S175), recently identified by us. In multiethnic cohort of 1104 unrelated hearing loss patients with biallelic mutations at the DFNB1 locus, the del(GJB2-D13S175) allele frequency of up to 0.5% (11/2208) was determined and this allele was shown to be predominantly associated with profound sensorineural hearing loss. Additionally, eight previously unpublished GJB2 mutations were described in this study. All patients carrying del(GJB2-D13S175) were of the Ingush ancestry. Among normal hearing individuals, del(GJB2-D13S175) was observed in Russian Republic of Ingushetia with a carrier rate of ~1% (2/241). Analysis of haplotypes associated with the deletion revealed a common founder in the Ingushes, with age of the deletion being ~3000 years old. Since del(GJB2-D13S175) was missed by standard methods of GJB2 analysis, del(GJB2-D13S175) detection has been added to our routine testing strategy for DFNB1 hearing loss.

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