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Hearing Disorders: HELP
Articles by Wangsheng Li
Based on 2 articles published since 2010
(Why 2 articles?)
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Between 2010 and 2020, Wang Li wrote the following 2 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 2015

Robusto, Michela / Fang, Mingyan / Asselta, Rosanna / Castorina, Pierangela / Previtali, Stefano C / Caccia, Sonia / Benzoni, Elena / De Cristofaro, Raimondo / Yu, Cong / Cesarani, Antonio / Liu, Xuanzhu / Li, Wangsheng / Primignani, Paola / Ambrosetti, Umberto / Xu, Xun / Duga, Stefano / Soldà, Giulia. ·Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy. · BGI-Shenzhen, Shenzhen, China. · Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UO Audiologia, Milan, Italy. · Division of Neuroscience, Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy. · Laboratory of Medical Genetics, Molecular Genetic Sector, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy. · Haemostasis Research Center, Institute of Internal Medicine and Geriatrics, Catholic University School of Medicine, Rome, Italy. ·Eur J Hum Genet · Pubmed #25182139.

ABSTRACT: Next-generation sequencing is currently the technology of choice for gene/mutation discovery in genetically-heterogeneous disorders, such as inherited sensorineural hearing loss (HL). Whole-exome sequencing of a single Italian proband affected by non-syndromic HL identified a novel missense variant within the PRPS1 gene (NM_002764.3:c.337G>T (p.A113S)) segregating with post-lingual, bilateral, progressive deafness in the proband's family. Defects in this gene, encoding the phosphoribosyl pyrophosphate synthetase 1 (PRS-I) enzyme, determine either X-linked syndromic conditions associated with hearing impairment (eg, Arts syndrome and Charcot-Marie-Tooth neuropathy type X-5) or non-syndromic HL (DFNX1). A subsequent screening of the entire PRPS1 gene in 16 unrelated probands from X-linked deaf families led to the discovery of two additional missense variants (c.343A>G (p.M115V) and c.925G>T (p.V309F)) segregating with hearing impairment, and associated with mildly-symptomatic peripheral neuropathy. All three variants result in a marked reduction (>60%) of the PRS-I activity in the patients' erythrocytes, with c.343A>G (p.M115V) and c.925G>T (p.V309F) affecting more severely the enzyme function. Our data significantly expand the current spectrum of pathogenic variants in PRPS1, confirming that they are associated with a continuum disease spectrum, thus stressing the importance of functional studies and detailed clinical investigations for genotype-phenotype correlation.

2 Article [Genetic testing and mutation analysis for the cochlear implantation children and their normal auditory phenotype parents]. 2012

Shi, Ming / Yang, Yibing / Zhao, Mei / Gao, Jin / Li, Wang / He, Yanming / Ruan, Biao / Dai, Pu. ·Department of Otolaryngology, First Affiliated Hospital of Kunming Medical College, Kunming, 650031, China. ·Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · Pubmed #23285950.

ABSTRACT: OBJECTIVE: To investigate the characteristics and significant of mutations of GJB2 gene, SLC26A4 gene and mitochondrial 12S rRNA in deaf children who received cochlear implantation (CI) in Yunnan and to provide the data for diagnoses and research of recovery in C1 children. METHOD: Genomic DNA was extracted from the peripheral blood samples collected from 46 children and their parents (110 cases). All the children received the CI. Their parents had normal auditory phenotype. PCR was performed and the products were sequenced by automated DNA sequencer to detect the hot spots of mutations. RESULT: The detection rates of GJB2 235delC (13.0%) and 109G>A (24.0%) mutations were significantly higher than other mutations. SLC26A was the secondary major mutation (13.0%). We found out that no patient carried the mitochondrial 12S rRNA mutations. Leukoencephalopathy, hyperbilirubinemia and hypoxic-ischemic injure were disclosed in 7 patients (15.2%). The rate of mutations in parents was 36.0% (23/64). There had no difference between Han and other racial minorities (P>0.05). CONCLUSION: The CI recipients in Yunnan with a high frequency of 235 delC and 109 G>A mutation, IVS7-2A>G (6.5%) is also a common mutation related hearing loss; aminoglycoside antibiotics may not be the main reason which induced congenital deaf in CI children; environment facts was suggested to contribute another important cause. The hot-spots gene screening for the C1 children could offer an accurate genetic counseling for early diagnosis and treatment, it also provide evidences for the clinical analysis between mutations and curative effect.