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Michela Robusto
Mingyan Fang
Rosanna Asselta
Pierangela Castorina
Stefano C
Sonia Caccia
Elena Benzoni
Raimondo De Cristofaro
Cong Yu
Xuanzhu Liu
Wangsheng Li
Paola Primignani
Umberto Ambrosetti
Stefano Duga
Giulia Soldà
Ospedale Maggiore Policlinico Milan

Publication date

August 2016

Abstract

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing los

Extracted data

Related items

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

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We have identified missense mutations at conserved amino acids in the PRPS1 gene on Xq22.3 in two fa...

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최재영

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To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. Until re...

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Yong-Yi Yuan
Guo-Jian Wang
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Yu Su
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Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by muta...

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

M. Robusto
M. Fang
R. Asselta
P. Castorina
S.C. Previtali
S. Caccia
E. Benzoni
R. De Cristofaro
C. Yu
A. Cesarani
X. Liu
W. Li
P. Primignani
U. Ambrosetti
X. Xu
S. Duga
G. Sold&#224

June 2015

Next-generation sequencing is currently the technology of choice for gene/mutation discovery in gene...

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy

Liu, X.Z.
Xie, D.
Yuan, H.J.
Brouwer, A.P. de
Christodoulou, J.
Yan, D.

January 2013

OBJECTIVE: The purpose of this review was to evaluate the current literature on phosphoribosylpyroph...

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

January 2010

We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which ...

Exome sequencing identifies PRPS1 as a major locus for X-linked nonsyndromic hearing loss in the Italian population

M. Robusto
J. Zhang
R. Asselta
J. Liang
X. Liu
P. Primignani
P. Castorina
S. Caccia
U. Ambrosetti
Y. Yin
J. Wang
S. Duga
G. Sold\ue0

June 2012

An Italian family with two siblings affected by nonsyndromic sensorineural hearing loss (NSHL) and s...

Identification by exome sequencing and functional characterization of novel deafness-causing mutations in PRPS1

M. Robusto
R. Asselta
S. Lancellotti
P. Primignani
P. Castorina
S. Caccia
U. Ambrosetti
S. Duga
G. Sold&#224

October 2012

Next-generation sequencing is being widely applied for gene discovery in rare inherited disorders, a...

Association of PRPS1 Mutations with Disease Phenotypes

Rahul Mittal
Kunal Patel
Jeenu Mittal
Brandon Chan
Denise Yan
M’hamed Grati
Xue Zhong Liu

January 2015

Phosphoribosylpyrophosphate synthetase 1 (PRPS1) codes for PRS-I enzyme that catalyzes the first ste...

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

de Brouwer, APM
van Bokhoven, H
Nabuurs, SB
Arts, WFM
Christodoulou, J
Duley, J

January 2010

Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucl...

PRPS1 mutations: four distinct syndromes and potential treatment.

Brouwer, A.P.M. de
Bokhoven, J.H.L.M. van
Nabuurs, S.B.
Arts, W.F.M.
Christodoulou, J.
Duley, J.

January 2010

Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucl...

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

Synofzik, M.
Muller vom Hagen, M.
Haack, T.B.
Wilhelm, C.
Lindig, T.
Beck-Wodl, S.
Nabuurs, S.B.
Kuilenburg, A.B.P. van
Brouwer, A.P. de
Schols, L.

January 2014

BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic se...

PRPS1 mutations: Four distinct syndromes and potential treatment

de Brouwer, Arjan P. M.
van Bokhoven, H.
Nabuurs, S. B.
Arts, W. F.
Christodoulou, J.
Duley, John

April 2010

Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucl...

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

de Brouwer, Arjan P.M.
van Bokhoven, Hans
Nabuurs, Sander B.
Arts, Willem Frans
Christodoulou, John
Duley, John

April 2010

Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucl...

X-Linked Hearing Loss: Two Gene Mutation Examples Provide Generalizable Implications for Clinical Care

Stanton, Susan G.

June 2014

To describe the inheritance patterns and auditory phenotype features of 3 Canadian families with mut...

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Kim, Hee-Jin
Sohn, Kwang-Min
Shy, Michael E.
Krajewski, Karen M.
Hwang, Miok
Park, June-Hee
Jang, Sue-Yon
Won, Hong-Hee
Choi, Byung-Ok
Hong, Sung Hwa
Kim, Byoung-Joon
Suh, Yeon-Lim
Ki, Chang-Seok
Lee, Soo-Youn
Kim, Sun-Hee
Kim, Jong-Won

September 2007

We have identified missense mutations at conserved amino acids in the PRPS1 gene on Xq22.3 in two fa...

Nonsyndromic X-linked hearing loss.

복진웅
최재영

January 2012

To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. Until re...

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

Xue Gao
Yong-Yi Yuan
Guo-Jian Wang
Jin-Cao Xu
Yu Su
Xi Lin
Pu Dai

January 2017

Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by muta...