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The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.

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Title: The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.
Authors: Parzefall, Thomas (AUTHOR), Lucas, Trevor (AUTHOR), Koenighofer, Martin (AUTHOR), Ramsebner, Reinhard (AUTHOR), Frohne, Alexandra (AUTHOR), Czeiger, Shelly (AUTHOR), Baumgartner, Wolf-Dieter (AUTHOR), Schoefer, Christian (AUTHOR), Gstoettner, Wolfgang (AUTHOR), Frei, Klemens (AUTHOR)
Source: Acta Oto-Laryngologica. Apr2017, Vol. 137 Issue 4, p356-360. 5p.
Subjects: Genetics of deafness, Diagnosis of deafness, DNA analysis, RNA analysis, Academic medical centers, Alleles, Genetic mutation, Polymerase chain reaction, Research funding, Genetic testing, Bioinformatics, Randomized controlled trials, Sequence analysis, Genotypes, Children
Geographic Terms: Austria
Abstract: Conclusion: Alterations within a novel putative Exon 1a within the gap junction beta 2 (GJB2) gene may play a role in the development of genetic hearing impairment in Austria. Objectives: Mutations in the GJB2 gene are the most common cause of hereditary sensorineural deafness. Genome-wide screening for alternative transcriptional start sites in the human genome has revealed the presence of an additional GJB2 exon (E1a). This study tested the hypothesis of whether alternative GJB2 transcription involving E1a may play a role in the development of congenital sensorineural deafness in Austria. Methods:GJB2 E1a and flanking regions were sequenced in randomized normal hearing control subjects and three different patient groups with non-syndromic hearing impairment (NSHI), and bioinformatic analysis was performed. Statistical analysis of disease association was carried out using the Cochran-Armitage test for trend. Results: A single change 2410 bp proximal to the translational start site (c.-2410T > C, rs7994748, NM_004004.5:c.-23 + 792T > C) was found to be significantly associated with the common c.35delG GJB2 mutation (p =.009). c.35delG in combination with c.-2410CC occurred at a 6.9-fold increased frequency compared to the control group. Additionally, one patient with idiopathic congenital hearing loss was found to be homozygous c.-2410CC. [ABSTRACT FROM AUTHOR]
Copyright of Acta Oto-Laryngologica is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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DbLabel: Psychology and Behavioral Sciences Collection
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.
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  Data: <searchLink fieldCode="AR" term="%22Parzefall%2C+Thomas%22">Parzefall, Thomas</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lucas%2C+Trevor%22">Lucas, Trevor</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Koenighofer%2C+Martin%22">Koenighofer, Martin</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ramsebner%2C+Reinhard%22">Ramsebner, Reinhard</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Frohne%2C+Alexandra%22">Frohne, Alexandra</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Czeiger%2C+Shelly%22">Czeiger, Shelly</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Baumgartner%2C+Wolf-Dieter%22">Baumgartner, Wolf-Dieter</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Schoefer%2C+Christian%22">Schoefer, Christian</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gstoettner%2C+Wolfgang%22">Gstoettner, Wolfgang</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Frei%2C+Klemens%22">Frei, Klemens</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Acta+Oto-Laryngologica%22">Acta Oto-Laryngologica</searchLink>. Apr2017, Vol. 137 Issue 4, p356-360. 5p.
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  Data: <searchLink fieldCode="DE" term="%22Genetics+of+deafness%22">Genetics of deafness</searchLink><br /><searchLink fieldCode="DE" term="%22Diagnosis+of+deafness%22">Diagnosis of deafness</searchLink><br /><searchLink fieldCode="DE" term="%22DNA+analysis%22">DNA analysis</searchLink><br /><searchLink fieldCode="DE" term="%22RNA+analysis%22">RNA analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Academic+medical+centers%22">Academic medical centers</searchLink><br /><searchLink fieldCode="DE" term="%22Alleles%22">Alleles</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Polymerase+chain+reaction%22">Polymerase chain reaction</searchLink><br /><searchLink fieldCode="DE" term="%22Research+funding%22">Research funding</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+testing%22">Genetic testing</searchLink><br /><searchLink fieldCode="DE" term="%22Bioinformatics%22">Bioinformatics</searchLink><br /><searchLink fieldCode="DE" term="%22Randomized+controlled+trials%22">Randomized controlled trials</searchLink><br /><searchLink fieldCode="DE" term="%22Sequence+analysis%22">Sequence analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Genotypes%22">Genotypes</searchLink><br /><searchLink fieldCode="DE" term="%22Children%22">Children</searchLink>
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  Label: Geographic Terms
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  Data: <searchLink fieldCode="DE" term="%22Austria%22">Austria</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Conclusion: Alterations within a novel putative Exon 1a within the gap junction beta 2 (GJB2) gene may play a role in the development of genetic hearing impairment in Austria. Objectives: Mutations in the GJB2 gene are the most common cause of hereditary sensorineural deafness. Genome-wide screening for alternative transcriptional start sites in the human genome has revealed the presence of an additional GJB2 exon (E1a). This study tested the hypothesis of whether alternative GJB2 transcription involving E1a may play a role in the development of congenital sensorineural deafness in Austria. Methods:GJB2 E1a and flanking regions were sequenced in randomized normal hearing control subjects and three different patient groups with non-syndromic hearing impairment (NSHI), and bioinformatic analysis was performed. Statistical analysis of disease association was carried out using the Cochran-Armitage test for trend. Results: A single change 2410 bp proximal to the translational start site (c.-2410T > C, rs7994748, NM_004004.5:c.-23 + 792T > C) was found to be significantly associated with the common c.35delG GJB2 mutation (p =.009). c.35delG in combination with c.-2410CC occurred at a 6.9-fold increased frequency compared to the control group. Additionally, one patient with idiopathic congenital hearing loss was found to be homozygous c.-2410CC. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Acta Oto-Laryngologica is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1080/00016489.2016.1249946
    Languages:
      – Code: eng
        Text: English
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        PageCount: 5
        StartPage: 356
    Subjects:
      – SubjectFull: Genetics of deafness
        Type: general
      – SubjectFull: Diagnosis of deafness
        Type: general
      – SubjectFull: DNA analysis
        Type: general
      – SubjectFull: RNA analysis
        Type: general
      – SubjectFull: Academic medical centers
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      – SubjectFull: Alleles
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      – SubjectFull: Genetic mutation
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      – SubjectFull: Polymerase chain reaction
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      – SubjectFull: Research funding
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      – SubjectFull: Genetic testing
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      – SubjectFull: Bioinformatics
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      – SubjectFull: Randomized controlled trials
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      – SubjectFull: Sequence analysis
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      – SubjectFull: Austria
        Type: general
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      – TitleFull: The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.
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              Text: Apr2017
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