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The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.
Lin, Ken; You, Ding-Yun; Zhang, Li-Huan; Zhou, Li-Juan; Zu, Jin-Yan; Xiao, Yang; Sun, Mei-Hua; Cao, Xue; Zhang, Tie-Song; Ma, Jing.
Afiliación
  • Lin K; Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, 650228, Yunnan, China.
  • You DY; 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.
  • Zhang LH; The Affiliated Stomatological Hospital of Kunming Medical University, Kunming, 650101, Yunnan, China.
  • Zhou LJ; School of Public Health, Kunming Medical University, Kunming, Yunnan, China.
  • Zu JY; Department of Laboratory Animal Science, Kunming Medical University, Yunnan, 650500, Kunming, China.
  • Xiao Y; 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.
  • Sun MH; 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.
  • Dong-Su; 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.
  • Cao X; 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.
  • Zhang TS; 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.
  • Ma J; Department of Laboratory Animal Science, Kunming Medical University, Yunnan, 650500, Kunming, China. dir1865@163.com.
J Appl Genet ; 63(2): 327-337, 2022 May.
Article en En | MEDLINE | ID: mdl-35000142
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Percepción Auditiva / Microtia Congénita / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Appl Genet Asunto de la revista: GENETICA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Percepción Auditiva / Microtia Congénita / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Appl Genet Asunto de la revista: GENETICA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido