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Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

Overview of attention for article published in BMC Medical Genomics, September 2018
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Title
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
Published in
BMC Medical Genomics, September 2018
DOI 10.1186/s12881-018-0630-9
Pubmed ID
Authors

Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang, Pu Dai

Abstract

Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in two Chinese families displaying X-linked inheritance deafness-2 (DFNX2) and one sporadic case with indefinite inheritance pattern. Direct DNA sequencing of the POU3F4 gene was performed in these families and in 100 Chinese individuals with normal hearing. There are characteristic imaging findings in DFNX2 Chinese families with POU3F4 mutations. The temporal bone computed tomography (CT) images of patients with DFNX2 are characterized by a thickened stapes footplate, hypoplasia of the cochlear base, absence of the bony modiolus, and dilated internal acoustic meatus (IAM) as well as by abnormally wide communication between the IAM and the basal turn of the cochlea. We identified three causative mutations in POU3F4 for three probands and their extended families. In family 1468, we observed a novel deletion mutation, c.973delT, which is predicted to result in a p.Trp325Gly amino acid frameshift. In family 2741, the mutation c.927delCTC was identified, which is predicted to result in the deletion of serine at position 310. In both families, the mutations were located in the POU homeodomain and are predicted to truncate the C-terminus of the POU domain. In the third family, a novel de novo transversion mutation (c.669 T > A) was identified in a 5-year-old boy that resulted in a nonsense mutation (p.Tyr223*). The mutation created a new stop codon and is predicted to result in a truncated POU3F4 protein. Based on characteristic radiological findings and clinical features, POU3F4 gene mutation analysis will increase the success rate of stapes operations and cochlear implantations, and improve molecular diagnosis, genetic counseling, and knowledge of the molecular epidemiology of HL among patients with DFNX2.

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Mendeley readers

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The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 27 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 22%
Student > Master 4 15%
Other 2 7%
Professor 2 7%
Student > Doctoral Student 2 7%
Other 2 7%
Unknown 9 33%
Readers by discipline Count As %
Medicine and Dentistry 9 33%
Pharmacology, Toxicology and Pharmaceutical Science 2 7%
Nursing and Health Professions 2 7%
Biochemistry, Genetics and Molecular Biology 2 7%
Social Sciences 1 4%
Other 1 4%
Unknown 10 37%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 05 September 2018.
All research outputs
#22,767,715
of 25,385,509 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#302,241
of 345,275 outputs
Outputs of similar age from BMC Medical Genomics
#41
of 59 outputs
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