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Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling

Overview of attention for article published in Biochemical Genetics, October 2017
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  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#15 of 496)
  • High Attention Score compared to outputs of the same age (80th percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

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1 news outlet
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4 Dimensions

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Title
Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling
Published in
Biochemical Genetics, October 2017
DOI 10.1007/s10528-017-9828-3
Pubmed ID
Authors

Hina Shaikh, Ali M. Waryah, Ashok K. Narsani, Muhammad Iqbal, Mohsin Shahzad, Yar M. Waryah, Naila Shaikh, Amber Mahmood

Abstract

CIB2 and GJB2 genes variants contribute significantly in familial cases of prelingual recessive hearing loss (HL). This study was aimed to determine the CIB2 and GJB2 variants and associated phenotype in 150 non-familial individuals with HL. After getting informed consent, 150 non-familial deaf patients were enrolled and blood samples were obtained for DNA extraction. Pure tone air conduction audiometry was performed. Coding exons of CIB2 and GJB2 genes were Sanger sequenced. A tetra primer ARMS assay was developed for recurrent CIB2 variant. Four bi-allelic GJB2 variants, c.71G>A p.(Trp24*), c.231G>A p.(Trp77*), c.235delC p.(Leu79Cysfs3*) and c.35delG p.(Gly11Leufs24*), were found in nine hearing impaired individuals. We also found four homozygotes and five carriers of c.380G>A p. (Arg127His) variant of controversial clinical significance. CIB2 sequencing revealed single recurrent variant c.272T>C p. (Phe91Ser) segregating with HL in ten individuals. Among our patients, c.71G>A (p.Trp24*) was the most common variant, accounted for 45% of GJB2 variants. Two known GJB2 variants, c.235delC p. (Leu79Cysfs3*) and c.310del14 p. (Lys105Argfs2*), are reported here for the first time in Pakistani population. Our data further support the benign nature of c.380G>A p. (Arg127His) variant. For CIB2, c.272T>C p. (Phe91Ser) is the second common cause of HL among our sporadic cases. Phenotypically, in our patients, individuals homozygous for GJB2 variants had profound HL, whereas CIB2 homozygotes had severe to profound prelingual HL. Our results suggest that GJB2 and CIB2 are common cause of HL in different Pakistani ethnicities.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Student > Doctoral Student 2 13%
Student > Bachelor 2 13%
Researcher 2 13%
Student > Master 1 6%
Unspecified 1 6%
Other 2 13%
Unknown 6 38%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 19%
Medicine and Dentistry 2 13%
Unspecified 1 6%
Nursing and Health Professions 1 6%
Pharmacology, Toxicology and Pharmaceutical Science 1 6%
Other 2 13%
Unknown 6 38%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 10. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 May 2022.
All research outputs
#3,287,028
of 23,742,253 outputs
Outputs from Biochemical Genetics
#15
of 496 outputs
Outputs of similar age
#62,640
of 330,451 outputs
Outputs of similar age from Biochemical Genetics
#2
of 5 outputs
Altmetric has tracked 23,742,253 research outputs across all sources so far. Compared to these this one has done well and is in the 85th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 496 research outputs from this source. They receive a mean Attention Score of 2.7. This one has done particularly well, scoring higher than 97% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 330,451 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 80% of its contemporaries.
We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.