Evidence map›Paper›PMID 40957967›Full record

ArticleJournal of human genetics2026

The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia.

Vera G Pshennikova, Fedor M Teryutin, Tuyara V Borisova, Georgii P Romanov, Alexandra M Cherdonova, Alena A Nikanorova, Igor V Morozov, Alexander A Bondar, Aisen V Solovyev, Sardana A Fedorova and 1 more

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Article in Journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Vera G PshennikovaLaboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, str. Yaroslavskogo 6/3, Yakutsk, 677000, Russian Federation.
Fedor M TeryutinLaboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, str. Yaroslavskogo 6/3, Yakutsk, 677000, Russian Federation.
Tuyara V BorisovaLaboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, str. Kulakovskogo 46, Yakutsk, 677013, Russian Federation.
Georgii P RomanovLaboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, str. Kulakovskogo 46, Yakutsk, 677013, Russian Federation.
Alexandra M CherdonovaLaboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, str. Kulakovskogo 46, Yakutsk, 677013, Russian Federation.
Alena A NikanorovaLaboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, str. Yaroslavskogo 6/3, Yakutsk, 677000, Russian Federation.
Igor V MorozovNovosibirsk State University, str. Pirogova 1, Novosibirsk, 633090, Russian Federation.
Alexander A BondarSB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, prosp. Lavrentyeva 8, Novosibirsk, 633090, Russian Federation.
Aisen V SolovyevLaboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, str. Kulakovskogo 46, Yakutsk, 677013, Russian Federation.
Sardana A FedorovaLaboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, str. Yaroslavskogo 6/3, Yakutsk, 677000, Russian Federation.ORCID http://orcid.org/0000-0002-6952-3868
Nikolay A BarashkovLaboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, str. Yaroslavskogo 6/3, Yakutsk, 677000, Russian Federation. barashkov2004@mail.ru.ORCID http://orcid.org/0000-0002-6984-7934

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Previously only two families were known with progressive autosomal recessive deafness 103 (DFNB103, OMIM616042) caused by pathogenic variants of the CLIC5 gene. In this study we present the novel truncating variant c.644 G > A p.(Trp215*) of this gene which was found in homozygous state among 22 patients with hearing loss (HL) from 16 unrelated families living in the Sakha Republic of Russia (Eastern Siberia). Genotype-phenotype analysis in patients with DFNB103 showed that HL was sensorineural, symmetrical and variable by severity (from moderate to profound). Audiograms mostly have a down curve configuration, with pronounced loss of high and mid frequencies. In most cases this form of HL was detected in the post-lingual period (mean age 7.9 ± 1.2 years) and has a significant severity progression with age. In average the patients with DFNB103 lost 7.4 ± 13.65 dB on the speech frequency range in pure tone averages (PTA

Indexed as

Chloride ChannelsDeafnessFounder EffectHearing Loss, SensorineuralAdolescentChildChild, PreschoolFemaleGenetic Association StudiesHaplotypesHumansMaleMutationPedigreePhenotypeSiberiaChloride Channels

Identifiers

PMID40957967

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.