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Transcript
P1-9-32
Whole-exome sequencing identifies POU3F4 p.Ala116fs mutation in two brothers with hearing loss
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Pollak A. , Lechowicz U. , Stawinski P. , Podgorska A. , Mueller-Malesinska M. , Oldak M. , Korniszewski L. ,
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Skarzynski H. , Ploski R.
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World Hearing Center, Institute of Physiology and Pathology of Hearing, Kajetany/ Warsaw, Poland, 2Department of Histology and
Embryology, Medical University of Warsaw, Warsaw, Poland, 3Department of Medical Genetics, Medical University in Warsaw, Warsaw,
Poland
One of the most common genetic diseases in human is hearing loss (HL). The majority of cases are
nonsyndromic (70%) and 1-5% are nonsyndromic X- linked. Most cases are due to mutations in a single gene.
Nevertheless, DNA diagnostics for hearing loss are challenging, since it is an extremely heterogeneous trait.
Although more than 70 causative genes have been described for the nonsyndromic hearing loss alone,
diagnostic application of the scientific progress has lagged behind. Some previous reports have shown that
"next-generation DNA sequencing techniques" have the potential to offer a novel testing platform that could test
all known genes in a sensitive, specific and cost-efficient manner. In this study, whole exome sequencing (WES)
for direct genetic diagnosis in NSHL was used. Sequential filtering of variants obtained from WES, bioinformatic
analyses, and Sanger sequencing validation identified premature termination p.Ala116fs mutation in POU3f4
gene as the candidate disease-causing mutation in the family. POU3F4 belongs to a subfamily of transcription
factors, which are characterized by 2 conserved deoxyribonucleic acid-binding domains, a 75- amino acid POUspecific domain and a 60-amino acid homeodomain, both helix-turn-helix structural deoxyribonucleic acid-binding
motifs. In this study clinical features and genetic analysis of a male child from a Polish family with congenital
deafness and POU3F4 p.Ala116fs mutation is described. Usually clinical features of DFNX2 (DFN3) often
include a mixed, progressive hearing loss, temporal bone anomalies, and stapes fixation.
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