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 |
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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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