Abstract
PRPS1 encodes isoform I of phosphoribosylpyrophosphate synthetase (PRS-I), a key enzyme in nucleotide biosynthesis. Different missense mutations in PRPS1 cause a variety of disorders that include PRS-I superactivity, nonsyndromic sensorineural hearing impairment, Charcot-Marie-Tooth disease, and Arts syndrome. It has been proposed that each mutation would result in a specific phenotype, depending on its effects on the structure and function of the enzyme. Thirteen Spanish unrelated families segregating X-linked hearing impairment were screened for PRPS1 mutations by Sanger sequencing. In two positive pedigrees, segregation of mutations was studied, and clinical data from affected subjects were compared. We report two novel missense mutations in PRPS1, p.Ile275Thr and p.Gly306Glu, which were found in the propositi of two unrelated Spanish families, both subjects presenting with nonsyndromic hearing impairment. Further investigation revealed syndromic features in other hemizygous carriers from one of the pedigrees. Sequencing of genes that are functionally related to PRPS1 did not reveal any candidate variant that might act as a phenotype modifier. This case of intrafamilial phenotypic variation associated with a single PRPS1 mut...Continue Reading
References
Jun 19, 1986·Biochimica Et Biophysica Acta·M A BeckerH A Simmonds
Jan 1, 1980·The Journal of Clinical Investigation·M A BeckerW L Nyhan
Nov 1, 1995·The Journal of Clinical Investigation·M A BeckerR L Switzer
Dec 1, 1996·Human Molecular Genetics·J TysonM Bitner-Glindzicz
Mar 21, 1998·Electrophoresis·N Guex, M C Peitsch
Jul 9, 2003·Arthritis and Rheumatism·Pablo García-PavíaMichael A Becker
Jul 9, 2004·Journal of Genetics·Bin CuiLandian Hu
Jul 5, 2005·Journal of Medical Genetics·F J del CastilloI del Castillo
May 10, 2006·Acta Crystallographica. Section F, Structural Biology and Crystallization Communications·Wenying TangLiwen Niu
Aug 31, 2006·The Biochemical Journal·Sheng LiJianping Ding
Dec 22, 2009·American Journal of Human Genetics·Xuezhong LiuHuijun Yuan
Apr 13, 2010·American Journal of Human Genetics·Arjan P M de BrouwerJohn Duley
Dec 3, 2011·Nucleosides, Nucleotides & Nucleic Acids·John A DuleyArjan P M de Brouwer
Jan 17, 2012·American Journal of Medical Genetics. Part a·Rocio MoranArjan P M de Brouwer
Nov 30, 2012·International Journal of Audiology·Xue Zhong LiuDenise Yan
Mar 20, 2013·IUBMB Life·Peng ChenXu Li
Nov 29, 2013·Journal of Clinical Neurology·Jin ParkByung-Ok Choi
Feb 18, 2014·Orphanet Journal of Rare Diseases·Matthis SynofzikLudger Schöls
Jun 26, 2014·European Journal of Human Genetics : EJHG·Almundher Al-MaawaliRoberto Mendoza-Londono
Sep 4, 2014·European Journal of Human Genetics : EJHG·Michela RobustoGiulia Soldà
Citations
Nov 26, 2016·The Journal of Gene Medicine·So Young KimByung Yoon Choi
Jul 19, 2016·Scientific Reports·Wuhong PeiShawn M Burgess
Jul 26, 2017·American Journal of Medical Genetics. Part a·Joseph PorrmannAndreas Tzschach
Oct 3, 2017·Human Mutation·Alessia FiorentinoUNKNOWN 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
Mar 16, 2018·Oncology Letters·Yimei MaJie Yu
Nov 28, 2019·Clinical Rheumatology·Bo-Yun YangXiao-Xiao Song
Aug 12, 2020·European Journal of Medical Genetics·Oriane MercatiSandrine Marlin
Dec 10, 2020·Molecular Genetics and Metabolism Reports·Sanna PuuseppKatrin Õunap
Jan 25, 2019·Audiology & Neuro-otology·Joseph B NadolTakefumi Kamakura