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The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia

  • Human Genetics • Original Paper
  • Published:
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Abstract

Congenital sensorineural hearing loss (CSHL) and microtia are development-related diseases, sharing some factors and affecting children’s hearing. However, genetic tests only focus on CSHL. We try to identify the common molecular mechanism of CSHL and microtia as candidates combining gene diagnosis biomarkers. Whole-exon sequencing (WES), Sanger sequencing, qPCR, and bioinformatics analyses were performed in microtia family (F1), family two, whose proband suffered from microtia and CSHL (F2), five microtia, and four CSHL individuals, respectively. We found that 40% microtia and 40% CSHL relevant genes were detected in F1 and a sharing pathway: the sensory perception of sound was identified. Moreover, the copy number variation in proband F2 was identified in one gene of the sharing pathway: EYA1. Meanwhile, two variants of BUB3 were identified in F1 data. BUB3 is related to development, dog ear type, direct and indirect interaction with microtia, and CSHL relevant genes. Notably, although the allele frequency of two variants of BUB3 showed significant differences between microtia and CSHL, the special microtia-relevant genotype also could be detected in one CSHL sample. These results suggest that the sensory perception of sound and the development of relevant pathways may be the common pathways of microtia and CSHL. Genes of these pathways can be used as candidates combining gene diagnosis biomarkers.

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Data availability

The authors confirm that the data supporting the findings of this study are available in GSA (https://bigd.big.ac.cn/gsa-human/), under accession number HRA000485 and HRA000486.

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Funding

This research was supported by Yunnan Applied Basic Research-Joint Special Project of Kunming Medical University (2019FE001-275, 202001AY070001-170); the Yunnan Children’s Hearing Impairment and Speech Disease Comprehensive Prevention Innovation Team (2019HC026); Digitalization, Development and Application of Biotic Resource (202002AA100007); Kunming Science and Technology Guarantee People’s Livelihood Development Plan Project (2019–1-S-25318000001124); The Kunming Health Commission Health Science and Technology Talent Project, China (2019-SW-29; 2018-SW-37; SW-21); and a grant (no. 2019KF003) from YNCUB. Xue Cao is supported by the Hundred-Talent Program of Kunming Medical University.

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Author notes

  1. Ken Lin and Ding-Yun You contributed equally to this work.

Authors and Affiliations

  1. Department of Otolaryngology, Head and Neck Surgery, Kunming Children’s Hospital, Kunming, 650228, Yunnan, China

    Ken Lin

  2. Department of Otolaryngology, Head and Neck Surgery, Kunming Children’s Hospital, The Affiliated Children’s Hospital of Kunming Medical University, 288 Qianxing Road, Xishan, Kunming, 650228, Yunnan, People’s Republic of China

    Ken Lin, Li-Juan Zhou, Jin-Yan Zu, Yang Xiao, Mei-Hua Sun,  Dong-Su, Tie-Song Zhang & Jing Ma

  3. The Affiliated Stomatological Hospital of Kunming Medical University, Kunming, 650101, Yunnan, China

    Ken Lin

  4. School of Public Health, Kunming Medical University, Kunming, Yunnan, China

    Ding-Yun You

  5. Department of Laboratory Animal Science, Kunming Medical University, Yunnan, 650500, Kunming, China

    Li-Huan Zhang & Xue Cao

  6. State Key Laboratory for Conservation and Utilization of Bio-Resources in Yunnan, Yunnan University, Yunnan, China

    Xue Cao

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  1. Ken Lin
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The authors contributed equally to this work.

Corresponding authors

Correspondence to Xue Cao, Tie-Song Zhang or Jing Ma.

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Lin, K., You, DY., Zhang, LH. et al. The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia. J Appl Genetics 63, 327–337 (2022). https://doi.org/10.1007/s13353-021-00674-9

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  • DOI: https://doi.org/10.1007/s13353-021-00674-9

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