A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

Su, Yu; Tang, Wenxue; Gao, Xue; Yu, Fei; Dai, Zhiyao; Zhao, Jiandong; Lu, Yu; Ji, Fei; Huang, Shasha; Yuan, Yongyi; Han, Mingyu; Song, Yue-shuai; Zhu, Yushan; Kang, Dongyang; Han, Dongyi; Dai, Pu

doi:10.1371/journal.pone.0089240

Cited by 8 publications

(5 citation statements)

References 42 publications

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“…This HL deterioration rate is comparable to the hearing deterioration rate in a normal hearing control population. A previous report stated that patients with TECTA -associated mid-frequency HL might be prone to presbycusis as they are theoretically exposed to a lower level of sound energy as a result of cochlear amplification deficiency [36,37]. However, our results indicated that the hearing loss progression rate was the same as in the control group.…”

Section: Discussioncontrasting

confidence: 71%

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss

Yasukawa

Moteki

Nishio

et al. 2019

Genes

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TECTA is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in various populations. In this study, we performed next-generation sequencing analysis of a large Japanese hearing loss cohort, including eight hundred and twelve (812) subjects from unrelated autosomal dominant hearing loss families, to estimate the prevalence and phenotype-genotype correlations in patients with TECTA mutations. The prevalence of TECTA mutations in Japanese autosomal dominant sensorineural hearing loss families was found to be 3.2%. With regard to the type of hearing loss, the patients with mutations in the nidogen-like domain or ZA domain of TECTA showed varied audiograms. However, most of the patients with mutations in the ZP domain showed mid-frequency hearing loss. The rate of hearing deterioration in TECTA-associated hearing loss patients and in the normal hearing Japanese control population were the same and regression lines for each group were parallel. We carried out haplotype analysis for four families which had one recurring missense variant, c.5597C>T (p.Thr1866Met). Our results revealed four different haplotypes, suggesting that this mutation occurred independently in each family. In conclusion, TECTA variants represent the second largest cause of autosomal dominant sensorineural hearing loss in Japan. The hearing loss progression observed in the patients with TECTA mutations might reflect presbycusis. The c.5597C>T mutation occurred in a mutational hot spot and is observed in many ethnic populations.

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Section: Discussioncontrasting

confidence: 71%

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss

Yasukawa

Moteki

Nishio

et al. 2019

Genes

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“…In deafness pedigrees, variants affecting protein function in 12 genes were verified with the positive diagnostic rate 56.67% (17/30) ( Table 3). Detailed information on these deafness pedigrees is provided in our previous studies [22][23][24][25][26][27][28][29].…”

Section: Positive Diagnostic Rate For Snvsmentioning

confidence: 99%

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Yuan

et al. 2019

Eur J Hum Genet

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Hereditary hearing loss is a monogenic disease with high genetic heterogeneity. Variants in more than 100 deafness genes underlie the basis of its pathogenesis. The aim of this study was to assess the ratio of SNVs in known deafness genes contributing to the etiology of both sporadic and familial sensorineural hearing loss patients from China. DNA samples from 1127 individuals, including normal hearing controls (n = 616), sporadic SNHL patients (n = 433), and deaf individuals (n = 78) from 30 hearing loss pedigrees were collected. The NGS tests included analysis of sequence alterations in 129 genes. The variants were interpreted according to the ACMG/AMP guidelines for genetic hearing loss combined with NGS data from 616 ethnically matched normal hearing adult controls. We identified a positive molecular diagnosis in 226 patients with sporadic SNHL (52.19%) and in patients from 17 deafness pedigrees (56.67%). Ethnically matched MAF filtering reduced the variants of unknown significance by 8.7%, from 6216 to 5675. Some complexities that may restrict causative variant identification are discussed. This report highlight the clinical utility of NGS panels identifying disease-causing variants for the diagnosis of hearing loss and underlines the importance of a broad data of control and ACMG/AMP standards for accurate clinical delineation of VUS variants.

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“…6). At present, the TECTA gene mutations reported in the literature mostly occur in Iraq Lang family and Japanese family, with only four variation reported in Chinese family, including c.257_262delinsGCT [23], c.990C > A [24], c.5945C > A [25], and c.1893C > T [26]. Due to a lack of genetic screening, the mutation rate of TECTA in Chinese population still remains unknown.…”

Section: Discussionmentioning

confidence: 99%

Splice-altering variant in TECTA as a cause of hearing loss DFNA8/12

Yang

Luo

Chen

et al. 2023

Preprint

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Purpose The aim of this study was to determine the genetic cause of early onset autosomal dominant hearing loss segregating in five-generation kindred of Chinese descent and provide preimplantation genetic testing for them. Methods Clinical examination, pedigree analysis, exome sequencing, minigene-based splicing analysis and in vivo RNA analysis were carried out on the family. Preimplantation genetic testing (PGT) for the causative variation and chromosome aneuploidis based on SNP analysis has been used to avoid transmission of hearing loss in this family. Results All the affected individuals presented with moderate down-sloping hearing loss and whole-exome sequencing identified a novel splice-site variant c.5383 + 6T > A in the tested subjects within the TECTA locus. Genotyping of all the 32 family members confirmed segregation of this variant and the deafness phenotype in the extended family. Functional analysis of RNA indicated that c.5383 + 6T > A is a pathogenic splice-site variant and should be considered for diagnostic purposes. Furthermore, a successful singleton pregnancy with no variant in the site c.5383 + 6 within TECTA locus was established and a healthy male child was born by PGT. Conclusion We have identified a novel variant c.5383 + 6T > A in TECTA ZA-ZP inter-domain, which could be contributing to in early onset autosomal dominant hearing loss phenotype,The implications of our study are valuable in the clinical diagnosis, prognosis, and treatment of patients with TECTA pathogenic variants.

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A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

Cited by 8 publications

References 42 publications

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Splice-altering variant in TECTA as a cause of hearing loss DFNA8/12

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