Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

Xuezhong Liu; Dongyi Han; Jianzhong Li; Bing Han; Xiaomei Ouyang; Jing Cheng; Xu Li; Zhanguo Jin; Youqin Wang; Maria Bitner-Glindzicz; Xiangyin Kong; Heng Xu; Albena Kantardzhieva; Roland D Eavey; Christine E Seidman; Jonathan G Seidman; Li L Du; Zheng-Yi Chen; Pu Dai; Maikun Teng; Denise Yan; Huijun Yuan

doi:10.1016/j.ajhg.2009.11.015

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Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

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Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

Xuezhong Liu, Dongyi Han, Jianzhong Li, Bing Han, Xiaomei Ouyang, Jing Cheng, Xu Li, Zhanguo Jin, Youqin Wang, Maria Bitner-Glindzicz, …

American journal of human genetics, Vol.86(1), pp.65-71

2010-01-08

DOI: https://doi.org/10.1016/j.ajhg.2009.11.015

PMCID: PMC2801751

PMID: 20021999

Abstract

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We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval spans a genetic distance of 5.41 cM and a physical distance of 15.1 Mb that overlaps the DFN2 locus. Mutation screening of the PRPS1 gene in this family and in the three previously reported DFN2 families identified four different missense mutations in PRPS1 . These mutations result in a loss of phosphoribosyl pyrophosphate (PRPP) synthetase 1 activity, as was shown in silico by structural analysis and was shown in vitro by enzymatic activity assays in erythrocytes and fibroblasts from patients. By in situ hybridization, we demonstrate expression of Prps1 in murine vestibular and cochlea hair cells, with continuous expression in hair cells and postnatal expression in the spiral ganglion. Being the second identified gene associated with X-linked nonsyndromic deafness, PRPS1 will be a good candidate gene for genetic testing for X-linked nonsyndromic hearing loss.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.159 Membrane Channels & Receptors; 1.159.1552 Purine Nucleoside Phosphorylase
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2
Creators: Xuezhong Liu - Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
Dongyi Han - Institute Of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China
Jianzhong Li - Institute Of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China
Bing Han - Institute Of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China
Xiaomei Ouyang - Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
Jing Cheng - Institute Of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China
Xu Li - Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei 230026, China
Zhanguo Jin - Institute Of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China
Youqin Wang - Hearing Center, Guizhou Provincial People's Hospital, GuiYang 550002, China
Maria Bitner-Glindzicz - Clinical and Molecular Genetics, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Xiangyin Kong - Health Science Center, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai Second Medical University, 225 South Chong Qing Road, Shanghai 200025, China
Heng Xu - Health Science Center, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai Second Medical University, 225 South Chong Qing Road, Shanghai 200025, China
Albena Kantardzhieva - Eaton-Peabody Laboratory, Department of Otolaryngology, The Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston 02114, USA
Roland D Eavey - Eaton-Peabody Laboratory, Department of Otolaryngology, The Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston 02114, USA
Christine E Seidman - Harvard Medical School, Department of Genetics, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
Jonathan G Seidman - Harvard Medical School, Department of Genetics, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
Li L Du - Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
Zheng-Yi Chen - Eaton-Peabody Laboratory, Department of Otolaryngology, The Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston 02114, USA
Pu Dai - Institute Of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China
Maikun Teng - Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei 230026, China
Denise Yan - Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
Huijun Yuan - Institute Of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China
Publication Details: American journal of human genetics, Vol.86(1), pp.65-71
Publisher: Elsevier
Academic Unit: Miller School of Medicine; UMMG Department of Otolaryngology
Language: English
Resource Type: Journal article
PMID: 20021999
PMCID: PMC2801751
Record Identifier: 991031562666802976