Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

doi:10.1371/journal.pone.0166618

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Article

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

PloS one - 1 Jan 2016

Pollak Agnieszka, Lechowicz Urszula, Kędra Anna, Stawiński Piotr, Rydzanicz Małgorzata, Furmanek Mariusz, Brzozowska Małgorzata, Mrówka Maciej, Skarżyński Henryk, Skarżyński Piotr H, Ołdak Monika, Płoski Rafał

Abstract excerpt

POU3F4 mutations (DFNX2) are the most prevalent among non-syndromic X-linked hearing loss (HL) identified to date. Clinical manifestations of DFNX2 usually comprise congenital HL either sensorineural or mixed, a tendency towards perilymphatic gusher during otologic surgery and temporal bone malformations. The aim of the present study was to screen for POU3F4 mutations in a group of 30 subjects with a suggestive...

Topics

Amino Acid Substitution
Audiometry, Pure-Tone
Codon
DNA Mutational Analysis
Exome
Female
Genes, X-Linked
Genetic Association Studies
Hearing Loss
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Humans

Male

Mutation

POU Domain Factors

Pedigree

Phenotype

Temporal Bone

Source

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Identifiers

PMID: 27941975
DOI: 10.1371/journal.pone.0166618
PMCID: PMC5152817

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