The noncoding genome and hearing loss

Avraham, Karen B.; Khalaily, Lama; Noy, Yael; Kamal, Lara; Koffler-Brill, Tal; Taiber, Shahar

doi:10.1007/s00439-021-02359-z

Cited by 14 publications

(16 citation statements)

References 121 publications

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“…Therefore, pathogenic variants of other uncommon deafness genes were not addressed. Similarly, copy number variations 61 and variants in noncoding regions 62 were beyond the scope of the NGS diagnostics used in this study. Second, the generalizability of this study could be limited due to the relatively small cohort size of 38 patients from a single Han Taiwanese population and because not all patients received imaging studies.…”

Section: Discussionmentioning

confidence: 99%

Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss

Lee

Lin

Chiang

et al. 2023

Otolaryngol.--head neck surg.

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ObjectiveUnilateral sensorineural hearing loss (USNHL) is a condition commonly encountered in otolaryngology clinics. However, its molecular pathogenesis remains unclear. This study aimed to investigate the genetic underpinnings of childhood USNHL and analyze the associated audiological features.Study DesignRetrospective analysis of a prospectively recruited cohort.SettingTertiary referral center.MethodsWe enrolled 38 children with USNHL between January 1, 2018, and December 31, 2021, and performed physical, audiological, imaging, and congenital cytomegalovirus (cCMV) examinations as well as genetic testing using next‐generation sequencing (NGS) targeting 30 deafness genes. The audiological results were compared across different etiologies.ResultsCausative genetic variants were identified in 8 (21.1%) patients, including 5 with GJB2 variants, 2 with PAX3 variants, and 1 with the EDNRB variant. GJB2 variants were found to be associated with mild‐to‐moderate USNHL in various audiogram configurations, whereas PAX3 and EDNRB variants were associated with profound USNHL in flat audiogram configurations. In addition, whole‐genome sequencing and extended NGS targeting 213 deafness genes were performed in 2 multiplex families compatible with autosomal recessive inheritance; yet no definite causative variants were identified. Cochlear nerve deficiency and cCMV infection were observed in 9 and 2, respectively, patients without definite genetic diagnoses.ConclusionGenetic underpinnings can contribute to approximately 20% of childhood USNHL, and different genotypes are associated with various audiological features. These findings highlight the utility of genetic examinations in guiding the diagnosis, counseling, and treatment of USNHL in children.

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Section: Discussionmentioning

confidence: 99%

Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss

Lee

Lin

Chiang

et al. 2023

Otolaryngol.--head neck surg.

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“…A number of microRNAs are known to be associated with hearing loss 29 , but there are few miRNA sequencing data associated with hearing loss. We obtained differentially expressed miRNAs by using next-generation sequencing in hearing loss model mice.…”

Section: Discussionmentioning

confidence: 99%

Up-regulated miR-224-5p can target the expression of Neuritin in hearing loss

song

Zhang

Sun

et al. 2022

Preprint

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Objective Hearing loss is a common neurodegenerative disease and few studies on miRNAs associated with hearing loss. This study screened the differentially expressed miRNAs in hearing loss and explored the relationship between Neuritin and hearing loss at the same time. Methods The combination of kanamycin sulfate and furosemide was used to establish a mouse hearing loss model. High-throughput sequencing was used to screen the differentially expressed miRNAs during hearing loss. ABR was used to detect listening function. QRT-PCR was used to identify the expression of differential miRNAs in hearing loss. Western blot was used to detect the expression of Neuritin protein. Luciferase was used to identify the binding sites of miRNA and Neuritin. Results Neuritin expression decreases after hearing loss. 24 up-regulated miRNAs and 66 down-regulated miRNAs were screened by sequencing. The expression of miR-224-5p increased in the Corti after hearing loss (p < 0.05). MiR-224-5p can inhibit expression of Neuritin and specifically bind to neuritin gene (p < 0.05). Conclusion Up-regulated miRNA-224-5p in hearing loss can target the expression of Neuritin.

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“…Similarly, copy number variations (CNVs) 59 and variants in non-coding regions 60 were beyond the scope of the NGS diagnostics used in this study. Second, the generalizability of this study could be limited due to the relatively small cohort size of 38 patients from a single Han All rights reserved.…”

Section: Discussionmentioning

confidence: 99%

Genetic Underpinnings and Audiological Characteristics in Children with Unilateral Sensorineural Hearing Loss

Lee

Lin

Chiang

et al. 2022

Preprint

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Objective: Unilateral sensorineural hearing loss is a condition commonly encountered in otolaryngology clinics. However, its molecular pathogenesis remains unclear. This study aimed to investigate the genetic underpinnings of childhood unilateral sensorineural hearing loss and analyze the associated audiological features. Study Design: Retrospective analysis of a prospectively recruited cohort Setting: Tertiary referral center Methods: We enrolled 38 children with unilateral sensorineural hearing loss and performed physical, audiological, imaging, and congenital cytomegalovirus examinations as well as genetic testing using next-generation sequencing targeting 30 deafness genes. The audiological results were compared across different etiologies. Results: Causative genetic variants were identified in eight (21.1%) patients, including five with GJB2 variants, two with PAX3 variants, and one with EDNRB variant. GJB2 variants were associated with mild-to-moderate unilateral sensorineural hearing loss in various audiogram configurations, whereas PAX3 and EDNRB variants were associated with profound unilateral sensorineural hearing loss in flat audiogram configurations. In addition, whole genome sequencing and extended next-generation sequencing targeting 213 deafness genes were performed in two multiplex families compatible with autosomal recessive inheritance; yet no definite causative variants were identified. Cochlear nerve deficiency and congenital cytomegalovirus infection were observed in nine and two patients without definite genetic diagnoses. Conclusion: Genetic underpinnings can contribute to approximately 20% of childhood unilateral sensorineural hearing loss, and different genotypes are associated with various audiological features. These findings highlight the utility of genetic examinations in guiding the diagnosis, counseling, and treatment of unilateral sensorineural hearing loss in children.

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The noncoding genome and hearing loss

Cited by 14 publications

References 121 publications

Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss

Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss

Up-regulated miR-224-5p can target the expression of Neuritin in hearing loss

Genetic Underpinnings and Audiological Characteristics in Children with Unilateral Sensorineural Hearing Loss

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