Journal article
Mutations in LOXHD1 gene cause various types and severities of hearing loss
Annals of otology, rhinology & laryngology, Vol.124 Suppl 1(1_suppl), pp.135S-141S
05/2015
DOI: 10.1177/0003489415574067
PMCID: PMC4441841
PMID: 25792669
Abstract
We present 2 families that were identified with novel mutations in LOXHD1 as a cause of nonprogressive hearing loss.
One thousand three hundred fourteen (1314) Japanese subjects with sensorineural hearing loss from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss.
Two patients in 1 family affected with homozygous mutation c.879+1G>A in LOXHD1 showed profound congenital hearing loss, whereas 2 patients in another family with compound heterozygous mutations, c.5869G>T (p.E1957X) and c.4480C>T (p.R1494X), showed moderate to severe hearing loss.
Mutations in LOXHD1 are extremely rare, and these cases are the first identified in a Japanese population. The genotype-phenotype correlation in LOXHD1 is still unclear. The differences in phenotypes in each patient might be the result of the nature of the mutations or the location on the gene, or be influenced by a genetic modifier.
Details
- Title: Subtitle
- Mutations in LOXHD1 gene cause various types and severities of hearing loss
- Creators
- Kentaro Mori - Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, JapanHideaki Moteki - Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, 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, USAYumiko Kobayashi - Department of Otolaryngology, Iwate Medical University School of Medicine, Iwate, JapanHela Azaiez - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USAKevin T Booth - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USAShin-Ya Nishio - Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, JapanHiroaki Sato - Department of Otolaryngology, Iwate Medical University School of Medicine, Iwate, JapanRichard J H Smith - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USAShin-Ichi Usami - Department of Otolaryngology, 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.135S-141S
- DOI
- 10.1177/0003489415574067
- PMID
- 25792669
- PMCID
- PMC4441841
- NLM abbreviation
- Ann Otol Rhinol Laryngol
- ISSN
- 0003-4894
- eISSN
- 1943-572X
- Publisher
- SAGE Publications; United States
- Grant note
- R01 DC003544 / NIDCD NIH HHS R01 DC012049 / NIDCD NIH HHS R01 DC002842 / NIDCD 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
- Record Identifier
- 9984006477402771
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