Evidence map›Paper›PMID 29151245›Full record

ArticleJournal of applied genetics2018

Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

Katarzyna Niepokój, Agnieszka M Rygiel, Piotr Jurczak, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal, Katarzyna Wertheim-Tysarowska

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Article in Journal of applied genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

1 citing paper in PubMed.

  1. Article
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

9 authors.

Katarzyna NiepokójDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland. katarzyna.niepokoj@imid.med.pl.ORCID http://orcid.org/0000-0002-8205-375X
Agnieszka M RygielDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland.
Piotr JurczakCenter of Diagnosis, Treatment and Rehabilitation of Hearing, Voice and Speech Disorders, John Paul II Podkarpacie Province Hospital, Korczyńska Street, 38-400, Krosno, Poland.
Aleksandra A KujkoDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland.
Dominika ŚniegórskaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland.
Justyna SawickaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland.
Alicja GrabarczykDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland.
Jerzy BalDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland.
Katarzyna Wertheim-TysarowskaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland.

Funding

Instytut Matki i Dziecka 510-18-17Narodowe Centrum Nauki 2014/13/N/NZ5/03671
6 · The paper itself

Abstract

Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic. After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome. This research highlights the importance of molecular analysis in establishing a clinical diagnosis of congenital hearing loss.

Indexed as

ChildChild, PreschoolConnexin 26ConnexinsDeafnessExtracellular Matrix ProteinsFemaleHigh-Throughput Nucleotide SequencingHumansMaleMutationPedigreeUsher SyndromesConnexin 26ConnexinsExtracellular Matrix ProteinsGJB2 protein, humanUSH2A protein, humanNGS, next-generation sequencingNSHL, nonsyndromic hearing lossSHL, syndromic hearing lossUsher syndrome

Identifiers

PMID29151245

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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 OpenQuestion graph.