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FOXF2 is required for coc… - University of Gothenburg, Sweden Till startsida
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FOXF2 is required for cochlear development in humans and mice.

Journal article
Authors Guney Bademci
Clemer Abad
Armagan Incesulu
Fahed Elian
Azadeh Reyahi
Oscar Diaz-Horta
Filiz B Cengiz
Claire J Sineni
Serhat Seyhan
Emine Ikbal Atli
Hikmet Basmak
Selma Demir
Ali Moussavi Nik
Tim Footz
Shengru Guo
Duygu Duman
Suat Fitoz
Hakan Gurkan
Susan H Blanton
Peter Carlsson
Katherina Walz
Mustafa Tekin
Published in Human molecular genetics
Volume 28
Issue 8
Pages 1286-1297
ISSN 1460-2083
Publication year 2019
Published at Department of Chemistry and Molecular Biology
Pages 1286-1297
Language en
Subject categories Molecular medicine (genetics and pathology), Medical cell biology, Anatomy, Molecular medicine, Molecular biology, Molecular biology, Cell Biology, Developmental Biology


Molecular mechanisms governing the development of the human cochlea remain largely unknown. Through genome sequencing, we identified a homozygous FOXF2 variant c.325A > T (p.I109F) in a child with profound sensorineural hearing loss associated with incomplete partition type I anomaly of the cochlea. This variant is not found in public databases or in over 1,000 ethnicity-matched control individuals. I109 is a highly conserved residue in the forkhead box (Fox) domain of FOXF2, a member of the Fox protein family of transcription factors that regulate the expression of genes involved in embryogenic development as well as adult life. Our in vitro studies show that the half-life of mutant FOXF2 is reduced compared to that of wildtype. Foxf2 is expressed in the cochlea of developing and adult mice. The mouse knockout of Foxf2 shows shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Expressions of Eya1 and Pax3, genes essential for cochlear development, are reduced in the cochleae of Foxf2 knockout mice. We conclude that FOXF2 plays a major role in cochlear development and its dysfunction leads to sensorineural hearing loss and developmental anomalies of the cochlea in humans and mice.

Page Manager: Webmaster|Last update: 9/11/2012

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