USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

Hideaki Moteki; Hidekane Yoshimura; Hela Azaiez; Kevin T Booth; A Eliot Shearer; Christina M Sloan; Diana L Kolbe; Toshinori Murata; Richard J H Smith; Shin-Ichi Usami

doi:10.1177/0003489415574070

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USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

Journal article

Peer reviewed

USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

Hideaki Moteki, Hidekane Yoshimura, Hela Azaiez, Kevin T Booth, A Eliot Shearer, Christina M Sloan, Diana L Kolbe, Toshinori Murata, Richard J H Smith and Shin-Ichi Usami

Annals of otology, rhinology & laryngology, Vol.124 Suppl 1(1_suppl), pp.123S-128S

05/2015

DOI: 10.1177/0003489415574070

PMCID: PMC4441826

PMID: 25743181

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Abstract

We present 2 patients who were identified with mutations in the GPR98 gene that causes Usher syndrome type 2 (USH2). One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were used to identify the genetic causes of hearing loss. We identified causative mutations in the GPR98 gene in 1 family (2 siblings). The patients had moderate sloping hearing loss, and no progression was observed over a period of 10 years. Fundus examinations were normal. However, electroretinograms revealed impaired responses in both patients. Early diagnosis of Usher syndrome has many advantages for patients and their families. This study supports the use of comprehensive genetic diagnosis for Usher syndrome, especially prior to the onset of visual symptoms, to provide the highest chance of diagnostic success in early life stages.

Mutation

Electroretinography

Usher Syndromes - genetics

Humans

Adolescent

Asian Continental Ancestry Group - genetics

Female

High-Throughput Nucleotide Sequencing

Receptors, G-Protein-Coupled - genetics

Sequence Analysis, DNA - methods

Details

Title: Subtitle: USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms
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
Hidekane Yoshimura - Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, 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
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
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
Toshinori Murata - Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan
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.123S-128S
DOI: 10.1177/0003489415574070
PMID: 25743181
PMCID: PMC4441826
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: 9984006477602771

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