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Hearing Disorders: HELP
Articles by Ling Yang
Based on 4 articles published since 2010
(Why 4 articles?)

Between 2010 and 2020, Ling Yang wrote the following 4 articles about Hearing Disorders.
+ Citations + Abstracts
1 Article Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss. 2014

Wang, Hongyang / Zhao, Yali / Yi, Yuting / Gao, Yun / Liu, Qiong / Wang, Dayong / Li, Qian / Lan, Lan / Li, Na / Guan, Jing / Yin, Zifang / Han, Bing / Zhao, Feifan / Zong, Liang / Xiong, Wenping / Yu, Lan / Song, Lijie / Yi, Xin / Yang, Ling / Petit, Christine / Wang, Qiuju. ·Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, China. · BGI-Tianjin, Tianjin, China. · Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France; UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France; Université Pierre et Marie Curie (Paris VI), Paris, France; Collège de France, Paris, France. ·PLoS One · Pubmed #25116015.

ABSTRACT: Autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous, among them, KCNQ4 is one of the most frequent disease-causing genes. More than twenty KCNQ4 mutations have been reported, but none of them were detected in Chinese mainland families. In this study, we identified a novel KCNQ4 mutation in a five generation Chinese family with 84 members and a known KCNQ4 mutation in a six generation Chinese family with 66 members. Mutation screening of 30 genes for ADNSHL was performed in the probands from thirty large Chinese families with ADNSHL by targeted region capture and high-throughput sequencing. The candidate variants and the co-segregation of the phenotype were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing in all ascertained family members. Then we identified a novel KCNQ4 mutation p.W275R in exon 5 and a known KCNQ4 mutation p.G285S in exon 6 in two large Chinese ADNSHL families segregating with post-lingual high frequency-involved and progressive sensorineural hearing loss. This is the first report of KCNQ4 mutation in Chinese mainland families. KCNQ4, a member of voltage-gated potassium channel family, is likely to be a common gene in Chinese patients with ADNSHL. The results also support that the combination of targeted enrichment and high-throughput sequencing is a valuable molecular diagnostic tool for autosomal dominant hereditary deafness.

2 Article A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. 2014

Zhao, Yali / Wang, Dayong / Zong, Liang / Zhao, Feifan / Guan, Liping / Zhang, Peng / Shi, Wei / Lan, Lan / Wang, Hongyang / Li, Qian / Han, Bing / Yang, Ling / Jin, Xin / Wang, Jian / Wang, Jun / Wang, Qiuju. ·Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; Beijing Institute of Otorhinolaryngology, Beijing Tongren Hospital, Capital Medical University, Beijing, China. · Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China. · BGI-Shenzhen, Shenzhen, China. · BGI-Tianjin, Tianjin, China. · BGI-Shenzhen, Shenzhen, China; School of Bioscience and Biotechnology, South China University of Technology, Guangzhou, China. ·PLoS One · Pubmed #24827932.

ABSTRACT: Mutations in the transmembrane channel-like gene 1 (TMC1) can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing post-lingual, progressive sensorineural hearing loss which were consistent with DFNA36 hearing loss. Auditory brainstem response (ABR) test of the youngest patient showed a special result with nearly normal threshold but prolonged latency, decreased amplitude, and the abnormal waveform morphology. Exome sequencing of the proband found four candidate variants in known hearing loss genes. Sanger sequencing in all family members found a novel variant c.1253T>A (p.M418K) in TMC1 at DFNA36 that co-segregated with the phenotype. This mutation in TMC1 is orthologous to the mutation found in the hearing loss mouse model named Bth ten years ago. In another 51 Chinese autosomal dominant hearing loss families, we screened the segments containing the dominant mutations of TMC1 and no functional variants were found. TMC1 is expressed in the hair cells in inner ear. Given the already known roles of TMC1 in the mechanotransduction in the cochlea and its expression in inner ear, our results may provide an interesting perspective into its function in inner ear.

3 Article Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin, China. 2013

Zhang, Junqing / Wang, Peng / Han, Bing / Ding, Yibing / Pan, Lei / Zou, Jing / Liu, Haisheng / Pang, Xinzhi / Liu, Enqing / Wang, Hongyue / Liu, Hongyan / Zhang, Xudong / Cheng, Xiu / Feng, Dafei / Li, Qian / Wang, Dayong / Zong, Liang / Yi, Yuting / Tian, Ning / Mu, Feng / Tian, Geng / Chen, Yaqiu / Liu, Gongshu / Zhang, Fuxia / Yi, Xin / Yang, Ling / Wang, Qiuju. ·BGI-Tianjin, Tianjin, China; Tianjin Medical Genomics Technology Engineering Center, Tianjin, China. ·Int J Pediatr Otorhinolaryngol · Pubmed #24100002.

ABSTRACT: OBJECTIVE: Newborn hearing screening (NHS) is used worldwide due to its feasibility and cost-efficiency. However, neonates with late-onset and progressive hearing impairment will be missed by NHS. Genetic factors account for an estimated 60% of congenital profound hearing loss. Our previous cohort studies were carried out in an innovative mode, i.e. hearing concurrent genetic screening, in newborns to improve the abilities or early diagnosis and intervention for the hearing defects. In this study, we performed the first clinical practice of this mode in Tianjin city. METHODS: A large cohort of 58,397 neonates, born between December 2011 and December 2012, in 44 hospitals in Tianjin, were screened for 20 hot spot hearing loss associated mutations from GJB2, GJB3, SLC26A4 and MTRNR1(12S rRNA). The data of genetic screening results was comprehensively analyzed with newborn hearing screening (NHS) results. RESULTS: We developed an accurate, high throughput genetic screening method and applied it to a total of 58,397 newborns in Tianjin. 3225 (5.52%) infants were detected to carry at least one mutation allele in GJB2, GJB3, SLC26A4 or MTRNR1. 34 (0.58‰) infants were positive for hearing loss caused by GJB2 or SLC26A4 mutations (homozygote or compound heterozygote). 54(0.93‰) infants are heterozygous of various genes. 109(1.87‰) infants had the pathological mitochondrial DNA mutation. CONCLUSION: Accurate, comprehensive hearing loss associated genetic screening can facilitate genetic counseling and provides valuable prognostic information to affected infants. This united screening mode of this study was a promising clinical practice.

4 Article Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. 2013

Zhao, Yali / Zhao, Feifan / Zong, Liang / Zhang, Peng / Guan, Liping / Zhang, Jianguo / Wang, Dayong / Wang, Jing / Chai, Wei / Lan, Lan / Li, Qian / Han, Bing / Yang, Ling / Jin, Xin / Yang, Weiyan / Hu, Xiaoxiang / Wang, Xiaoning / Li, Ning / Li, Yingrui / Petit, Christine / Wang, Jun / Wang, Huanming Yang Jian / Wang, Qiuju. ·Department of Otorhinolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China. ·PLoS One · Pubmed #23936043.

ABSTRACT: In this study, a five-generation Chinese family (family F013) with progressive autosomal dominant hearing loss was mapped to a critical region spanning 28.54 Mb on chromosome 9q31.3-q34.3 by linkage analysis, which was a novel DFNA locus, assigned as DFNA56. In this interval, there were 398 annotated genes. Then, whole exome sequencing was applied in three patients and one normal individual from this family. Six single nucleotide variants and two indels were found co-segregated with the phenotypes. Then using mass spectrum (Sequenom, Inc.) to rank the eight sites, we found only the TNC gene be co-segregated with hearing loss in 53 subjects of F013. And this missense mutation (c.5317G>A, p.V1773M ) of TNC located exactly in the critical linked interval. Further screening to the coding region of this gene in 587 subjects with nonsyndromic hearing loss (NSHL) found a second missense mutation, c.5368A>T (p. T1796S), co-segregating with phenotype in the other family. These two mutations located in the conserved region of TNC and were absent in the 387 normal hearing individuals of matched geographical ancestry. Functional effects of the two mutations were predicted using SIFT and both mutations were deleterious. All these results supported that TNC may be the causal gene for the hearing loss inherited in these families. TNC encodes tenascin-C, a member of the extracellular matrix (ECM), is present in the basilar membrane (BM), and the osseous spiral lamina of the cochlea. It plays an important role in cochlear development. The up-regulated expression of TNC gene in tissue repair and neural regeneration was seen in human and zebrafish, and in sensory receptor recovery in the vestibular organ after ototoxic injury in birds. Then the absence of normal tenascin-C was supposed to cause irreversible injuries in cochlea and caused hearing loss.