Frequency and clinical features of hearing loss caused by STRC deletions

Autor: Keiko Wakui, Hiromitsu Miyazaki, Yumiko Kobayashi, Shin-ichi Usami, Hirofumi Sakaguchi, Kozo Kumakawa, Natsumi Uehara, Tomomi Yamaguchi, Yoshimitsu Fukushima, Tomoki Kosho, Takashi Ishino, Kenji Ohyama, Satoko Abe, Hideaki Moteki, Shin-ya Nishio, Masahiro Takahashi, Rina Matsuoka, Yoh Yokota
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Male
0301 basic medicine
Proband
lcsh:Medicine
Deafness
Audiology
Gjb2 gene
0302 clinical medicine
Medicine
Copy-number variation
Child
lcsh:Science
Sequence Deletion
Comparative Genomic Hybridization
education.field_of_study
Multidisciplinary
Homozygote
Middle Aged
Child
Preschool
Intercellular Signaling Peptides and Proteins
Female
Sensorineural hearing loss
medicine.symptom
STRC
Adult
medicine.medical_specialty
Adolescent
DNA Copy Number Variations
Hearing loss
Hearing Loss
Sensorineural
Population
Polymorphism
Single Nucleotide
Article
Young Adult
03 medical and health sciences
otorhinolaryngologic diseases
Humans
Hearing Loss
education
Aged
business.industry
lcsh:R
Infant
Newborn
Infant
medicine.disease
030104 developmental biology
lcsh:Q
business
030217 neurology & neurosurgery
Comparative genomic hybridization
Zdroj: Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports
ISSN: 2045-2322
Popis: Sensorineural hearing loss is a common deficit and mainly occurs due to genetic factors. Recently, copy number variants (CNVs) in the STRC gene have also been recognized as a major cause of genetic hearing loss. We investigated the frequency of STRC deletions in the Japanese population and the characteristics of associated hearing loss. For CNV analysis, we employed a specialized method of Ion AmpliSeqTM sequencing, and confirmed the CNV results via custom array comparative genomic hybridization. We identified 17 probands with STRC homozygous deletions. The prevalence of STRC homozygous deletions was 1.7% in the hearing loss population overall, and 4.3% among mild-to-moderate hearing loss patients. A 2.63% carrier deletion rate was identified in both the hearing loss and the control population with normal hearing. In conclusion, our results show that STRC deletions are the second most common cause of mild-to-moderate hearing loss after the GJB2 gene, which accounts for the majority of genetic hearing loss. The phenotype of hearing loss is congenital and appears to be moderate, and is most likely to be stable without deterioration even after the age of 50. The present study highlights the importance of the STRC gene as a major cause of mild-to-moderate hearing loss.
Databáze: OpenAIRE
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