De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

Hideaki Moteki; A Eliot Shearer; Shuji Izumi; Yamato Kubota; Hela Azaiez; Kevin T Booth; Christina M Sloan; Diana L Kolbe; Richard J H Smith; Shin-Ichi Usami

doi:10.1177/0003489415575042

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De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

Journal article

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Peer reviewed

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

Hideaki Moteki, A Eliot Shearer, Shuji Izumi, Yamato Kubota, Hela Azaiez, Kevin T Booth, Christina M Sloan, Diana L Kolbe, Richard J H Smith and Shin-Ichi Usami

Annals of otology, rhinology & laryngology, Vol.124 Suppl 1(1_suppl), pp.169S-176S

05/2015

DOI: 10.1177/0003489415575042

PMCID: PMC4441833

PMID: 25792666

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Abstract

In this report, we present a male patient with no family history of hearing loss, in whom we identified a novel de novo mutation in the POU3F4 gene. One hundred ninety-four (194) Japanese subjects from unrelated and nonconsanguineous families were enrolled in this study. We used targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes for identifying the genetic causes of hearing loss. A novel de novo frameshift mutation of POU3F4 to c.727_728insA (p.N244KfsX26) was identified. The patient was a 7-year-old male with congenital progressive hearing loss and inner ear deformity. Although the patient had received a cochlear implant, auditory skills were still limited. The patient also exhibited developmental delays similar to those previously associated with POU3F4 mutation. This is the first report of a mutation in POU3F4 causing hearing loss in a Japanese patient without a family history of hearing loss. This study underscores the importance of comprehensive genetic testing of patients with hearing loss for providing accurate prognostic information and guiding the optimal management of patient rehabilitation.

Deafness - genetics

Evoked Potentials, Auditory, Brain Stem

Frameshift Mutation

POU Domain Factors - genetics

DNA Mutational Analysis

Humans

Asian Continental Ancestry Group - genetics

Female

Male

Developmental Disabilities - genetics

High-Throughput Nucleotide Sequencing

Child

Details

Title: Subtitle: De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss
Creators: Hideaki Moteki - Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
A Eliot Shearer - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Shuji Izumi - Department of Otolaryngology-Head and Neck Surgery, Niigata University Faculty of Medicine, Niigata, Japan
Yamato Kubota - Department of Otolaryngology-Head and Neck Surgery, Niigata University Faculty of Medicine, Niigata, Japan
Hela Azaiez - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Kevin T Booth - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Christina M Sloan - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Diana L Kolbe - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Richard J H Smith - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Shin-Ichi Usami - Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp
Resource Type: Journal article
Publication Details: Annals of otology, rhinology & laryngology, Vol.124 Suppl 1(1_suppl), pp.169S-176S
DOI: 10.1177/0003489415575042
PMID: 25792666
PMCID: PMC4441833
NLM abbreviation: Ann Otol Rhinol Laryngol
ISSN: 0003-4894
eISSN: 1943-572X
Publisher: United States
Grant note: R01 DC003544 / NIDCD NIH HHS R01 DC012049 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS T32 GM007337 / NIGMS NIH HHS
Language: English
Date published: 05/2015
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine; Iowa Institute of Human Genetics
Record Identifier: 9984007286702771

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