論文

国際誌
2019年3月13日

Frequency and clinical features of hearing loss caused by STRC deletions.

Scientific reports
  • Yoh Yokota
  • ,
  • Hideaki Moteki
  • ,
  • Shin-Ya Nishio
  • ,
  • Tomomi Yamaguchi
  • ,
  • Keiko Wakui
  • ,
  • Yumiko Kobayashi
  • ,
  • Kenji Ohyama
  • ,
  • Hiromitsu Miyazaki
  • ,
  • Rina Matsuoka
  • ,
  • Satoko Abe
  • ,
  • Kozo Kumakawa
  • ,
  • Masahiro Takahashi
  • ,
  • Hirofumi Sakaguchi
  • ,
  • Natsumi Uehara
  • ,
  • Takashi Ishino
  • ,
  • Tomoki Kosho
  • ,
  • Yoshimitsu Fukushima
  • ,
  • Shin-Ichi Usami

9
1
開始ページ
4408
終了ページ
4408
記述言語
英語
掲載種別
DOI
10.1038/s41598-019-40586-7

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.

リンク情報
DOI
https://doi.org/10.1038/s41598-019-40586-7
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/30867468
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416315