Evidence map›Paper›PMID 35150090›Full record

ArticleMolecular genetics & genomic medicine2022

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.

Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M Nouel-Saied, Marja-Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M Leal

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2022. 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
0.4field-weighted citation impact, top 34% 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, 2 citations in OpenAlex.

  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

10 authors at 5 institutions in 2 countries.

Thashi BharadwajCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.ORCID 0000-0002-7870-5655
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.ORCID 0000-0001-7310-6082
Anushree AcharyaCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.ORCID 0000-0002-1889-8723
Liz M Nouel-SaiedCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.ORCID 0000-0003-0378-7788
Marja-Leena VäisänenNorthern Finland Laboratory Centre NordLab and Medical Research Centre, Oulu University Hospital and University of Oulu, Oulu, Finland.
Minna KraatariDepartment of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.ORCID 0000-0002-8072-699X
Elisa RahikkalaDepartment of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
Irma JarvelaDepartment of Medical Genetics, University of Helsinki, Helsinki, Finland.
Jouko KotimäkiDepartment of Otorhinolaryngology, Kainuu Central Hospital, Kajaani, Finland.
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.ORCID 0000-0003-1231-8174
Columbia University Irving Medical Center · USOulu University Hospital · FIKajaani University of Applied Sciences · FIUniversity of Helsinki · FIUniversity of Turku · FI

Funding

Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7M
Localization of Nonsyndromic Hearing Impairment GenesR01DC011651 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEAL, SUZANNE M · 2011 to 2020
$2.9M
NIDCD NIH HHS R01 DC003594NIDCD NIH HHS R01 DC011651NIH HHS R01 DC003594NIH HHS R01 DC011651
6 · The paper itself

Abstract

backgroundThe genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate-to-severe hearing impairment.

methodsExome and custom capture next-generation sequencing were used to detect the underlying cause of hearing impairment.

resultsIn both Finnish families, we identified a homozygous pathogenic splice site variant c.637+1G>T in CAPB2 that is known to cause autosomal recessive nonsyndromic hearing impairment. Four CABP2 variants have been reported to underlie autosomal recessive nonsyndromic hearing impairment in eight families from Iran, Turkey, Pakistan, Italy, and Denmark. Of these variants, the pathogenic splice site variant c.637+1G>T is the most prevalent. The c.637+1G>T variant is enriched in the Finnish population, which has undergone multiple bottlenecks that can lead to the higher frequency of certain variants including those involved in disease.

conclusionWe report two Finnish families with hearing impairment due to the CABP2 splice site variant c.637+1G>T.

Indexed as

DeafnessHearing LossFinlandGenes, RecessiveHumansautosomal recessiveCABP2hearing impairment

Identifiers

PMID35150090
PMCPMC8922966
OpenAlexW4211115201

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.