Evidence map›Paper›PMID 25296581›Full record

ArticleJournal of human genetics2014

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

Saima Siddiqi, Muhammad Ismail, Jaap Oostrik, Saba Munawar, Atika Mansoor, Hannie Kremer, Raheel Qamar, Margit Schraders

Open access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 51% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

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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

8 authors at 5 institutions in 2 countries.

Saima SiddiqiInstitute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
Muhammad IsmailInstitute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
Jaap Oostrik1] Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Saba Munawar1] Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan [2] Research Center For Modeling and Simulation, National University of Sciences and Technology (NUST), Islamabad, Pakistan.
Atika MansoorInstitute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
Hannie Kremer1] Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands [3] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Raheel Qamar1] COMSATS Institute of Information Technology, Islamabad, Pakistan [2] Al-Nafees Medical College and Hospital, Isra University, Islamabad, Pakistan.
Margit Schraders1] Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Institute of Biomedical and Genetic Engineering · PKCOMSATS University Islamabad · PKRadboud Institute for Molecular Life Sciences · NLRadboud University Medical Center · NLRadboud University Nijmegen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

With homozygosity mapping we have identified two large homozygous regions on chromosome 3q13.11-q13.31 and chromosome 19p13.3-q31.32 in a large Pakistani family suffering from autosomal recessive nonsyndromic hearing impairment (arNSHI). The region on chromosome 19 overlaps with the previously described deafness loci DFNB15, DFNB72 and DFNB95. Mutations in GIPC3 have been shown to underlie the nonsyndromic hearing impairment linked to these loci. Sequence analysis of all exons and exon-intron boundaries of GIPC3 revealed a homozygous canonical splice site mutation, c.226-1G>T, in GIPC3. This is the first mutation described in GIPC3 that affects splicing. The c.226-1G>T mutation is located in the acceptor splice site of intron 1 and is predicted to affect the normal splicing of exon 2. With a minigene assay it was shown to result in the use of an alternative acceptor site in exon 2, resulting in a frameshift and a premature stop codon. This study expands the mutational spectrum of GIPC3 in arNSHI.

Indexed as

Adaptor Proteins, Signal TransducingCarrier ProteinsGenetic LinkageHearing Loss, SensorineuralHumansMutationPakistanPedigreeRNA Splice SitesAdaptor Proteins, Signal TransducingCarrier ProteinsGIPC3 protein, humanRNA Splice Sites

Identifiers

PMID25296581
OpenAlexW2077017927

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.