Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation.

Andrea Ciorba, Virginia Corazzi, Michela Melegatti, Anna Morgan, Giulia Pelliccione, Giorgia Girotto, Stefania Bigoni

Open access · diamondAbstract readCase Reports

In one paragraph

Article in The journal of international advanced otology, 2021. 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

0.3field-weighted citation impact, top 49% of its field

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, 3 citations in OpenAlex.

An Unusual Retinal Presentation of a NovelCase reports in ophthalmology
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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Andrea CiorbaDepartment of ENT - Audiology, University Hospital of Ferrara, Ferrara, Italy.

Virginia CorazziDepartment of ENT - Audiology, University Hospital of Ferrara, Ferrara, Italy.

Michela MelegattiDepartment of ENT - Audiology, University Hospital of Ferrara, Ferrara, Italy.

Anna MorganInstitute for Maternal and Child Health - IRCCS, Burlo Garofolo, Trieste, Italy.

Giulia PelliccioneInstitute for Maternal and Child Health - IRCCS, Burlo Garofolo, Trieste, Italy;Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

Giorgia GirottoInstitute for Maternal and Child Health - IRCCS, Burlo Garofolo, Trieste, Italy;Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

Stefania BigoniMedical Genetic Unit, Ferrara University Hospital, Ferrara, Italy.

University of Ferrara · ITUniversity of Trieste · ITIRCCS Materno Infantile Burlo Garofolo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This paper aims to present a third world case of Non-Syndromic sensorineural hearing loss (NSHL) due to a novel missense variant in COL11A1 gene, defined as DFNA37 non-syndromic hearing loss. The clinical features of a 6-year-old boy affected by a bilateral moderate to severe down-sloping sensorineural hearing loss are presented, as well as the genetic analysis, the latter identifying a heterozygous missense variation in the COL11A1 gene. In addition, in families with autosomal dominant transmission, COL11A1 gene should be considered in the genetic workup of the NSHL with prelingual onset.

Indexed as

Hearing LossCesarean SectionChildCollagen Type XIFemaleHumansMaleMutationPregnancyCOL11A1 protein, humanCollagen Type XI

Identifiers

PMID33605226

DOI10.5152/iao.2020.8179

PMCPMC7901426

OpenAlexW3126450520

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Textmetadata

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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.