Pick Topic
Review Topic
List Experts
Examine Expert
Save Expert
  Site Guide ··   
Hearing Disorders: HELP
Articles by Xuanzhu Liu
Based on 3 articles published since 2010
(Why 3 articles?)
||||

Between 2010 and 2020, Xuanzhu Liu wrote the following 3 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 2015

Zhang, Jie / Duo, Lina / Lin, Zhimiao / Wang, Huijun / Yin, Jinghua / Cao, Xu / Zhao, Jiahui / Dai, Lanlan / Liu, Xuanzhu / Zhang, Jianguo / Yang, Yong / Tang, Zhanli. ·Department of Dermatology, Qilu Hospital of Shandong University (Qingdao), Qingdao 266035, China; Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China. · Peking-Tsinghua Center for Life Sciences, Beijing 100871, China; Academy for Advanced Interdisciplinary Studies, Peking University, Beijing 100871, China. · Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China. · Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China; Academy for Advanced Interdisciplinary Studies, Peking University, Beijing 100871, China. · Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China. · BGI-Shenzhen, Shenzhen 518083, China. · Department of Dermatology, Qilu Hospital of Shandong University, Jinan 250012, China. Electronic address: tzldyx2010@sina.com. ·Gene · Pubmed #25895478.

ABSTRACT: As a powerful tool to identify the molecular pathogenesis of Mendelian disorders, exome sequencing was used to identify the genetic basis of two siblings with hearing loss and hypotrichosis and clarify the diagnosis. No pathogenic mutations in GJB2, GJB3 and GJB6 genes were found in the siblings. By analysis of exome of the proband, we identified a novel missense (p.R306C) mutation and a nonsense (p.R186*) mutation in the BCS1L gene. Mutations were confirmed by Sanger sequencing. The siblings were compound heterozygotes, and the inheritance mode of autosomal recessive was postulated. BCS1L is the causative gene of Björnstad syndrome, which is characterized by sensorineural hearing loss and pili torti. The longitudinal gutters along the hair shaft were found by scanning electron microscopy in our patient. Therefore the diagnosis of Björnstad syndrome was eventually made for the patients. Our study extends the phenotypic spectrum of Björnstad syndrome and highlights the clinical applicability of exome sequencing as a diagnostic tool for atypical Mendelian disorders.

2 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.

3 Article Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 2014

Almoguera, Berta / He, Sijie / Corton, Marta / Fernandez-San Jose, Patricia / Blanco-Kelly, Fiona / López-Molina, Maria Isabel / García-Sandoval, Blanca / Del Val, Javier / Guo, Yiran / Tian, Lifeng / Liu, Xuanzhu / Guan, Liping / Torres, Rosa J / Puig, Juan G / Hakonarson, Hakon / Xu, Xun / Keating, Brendan / Ayuso, Carmen. ·Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. castillob@email.chop.edu. · College of Life Sciences, University of Chinese Academy of Sciences, Beijing, 100049, China. hesijie@genomics.cn. · BGI-Shenzhen, Shenzhen, 518083, China. hesijie@genomics.cn. · Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital (IISFJD, UAM), 28040, Madrid, Spain. mcorton@fjd.es. · Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. mcorton@fjd.es. · Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital (IISFJD, UAM), 28040, Madrid, Spain. patricia.fernandez@fjd.es. · Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. patricia.fernandez@fjd.es. · Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital (IISFJD, UAM), 28040, Madrid, Spain. fblancok@fjd.es. · Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. fblancok@fjd.es. · Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. milopez@fjd.es. · Department of Ophthalmology, Fundación Jiménez Díaz, 28040, Madrid, Spain. milopez@fjd.es. · Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. bgarcia@fjd.es. · Department of Ophthalmology, Fundación Jiménez Díaz, 28040, Madrid, Spain. bgarcia@fjd.es. · Department of Neurology, Fundación Jiménez Díaz, 28040, Madrid, Spain. JdelVal@fjd.es. · Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. guoy@email.chop.edu. · Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. tianl@email.chop.edu. · BGI-Shenzhen, Shenzhen, 518083, China. liuxuanzhu@genomics.cn. · BGI-Shenzhen, Shenzhen, 518083, China. guanliping@genomics.cn. · Department of Biochemistry, La Paz University Hospital IdiPaz, Madrid, 28046, Spain. rosa.torres@salud.madrid.org. · Department of Internal Medicine, Metabolic-Vascular Unit, La Paz University Hospital IdiPaz, Madrid, 28046, Spain. juangarciapuig@gmail.com. · Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. hakonarson@email.chop.edu. · BGI-Shenzhen, Shenzhen, 518083, China. xuxun@genomics.cn. · The Guangdong Enterprise Key Laboratory of Human Disease Genomics, Shenzhen, China. xuxun@genomics.cn. · Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. bkeating@mail.med.upenn.edu. · Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital (IISFJD, UAM), 28040, Madrid, Spain. cayuso@fjd.es. · Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. cayuso@fjd.es. ·Orphanet J Rare Dis · Pubmed #25491489.

ABSTRACT: BACKGROUND: Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or X-linked non-syndromic sensorineural deafness (DFN2, MIM 304500). All three are X-linked recessively inherited and males affected display variable degree of central and peripheral neuropathy. We applied whole exome sequencing to a three-generation family with optic atrophy followed by retinitis pigmentosa (RP) in all three cases, and ataxia, progressive peripheral neuropathy and hearing loss with variable presentation. METHODS: Whole exome sequencing was performed in two affecteds and one unaffected member of the family. Sanger sequencing was used to validate and segregate the 12 candidate mutations in the family and to confirm the absence of the novel variant in PRPS1 in 191 controls. The pathogenic role of the novel mutation in PRPS1 was assessed in silico and confirmed by enzymatic determination of PRS activity, mRNA expression and sequencing, and X-chromosome inactivation. RESULTS: A novel missense mutation was identified in PRPS1 in the affected females. Age of onset, presentation and severity of the phenotype are highly variable in the family: both the proband and her mother have neurological and ophthalmological symptoms, whereas the phenotype of the affected sister is milder and currently confined to the eye. Moreover, only the proband displayed a complete lack of expression of the wild type allele in leukocytes that seems to correlate with the degree of PRS deficiency and the severity of the phenotype. Interestingly, optic atrophy and RP are the only common manifestations to all three females and the only phenotype correlating with the degree of enzyme deficiency. CONCLUSIONS: These results are in line with recent evidence of the existence of intermediate phenotypes in PRS-I deficiency syndromes and demonstrate that females can exhibit a disease phenotype as severe and complex as their male counterparts.