Abstract
PTPRQ gene, encoding protein tyrosine phosphatase receptor Q, is essential for the normal maturation and function of hair bundle in the cochlea. Its mutations can cause the defects of stereocilia in hair cell, which lead to nonsyndromic sensorineural hearing loss. Using next-generation sequencing and Sanger sequencing method, we identified a novel compound heterozygous missense mutation, c.4472C>T p.T1491M (maternal allele) and c.1973T>C p.V658A (paternal allele), in PTPRQ gene. The two mutations are the first reported to be the cause of recessively inherited sensorineural hearing loss. Hearing loss levels and progression involved by PTPRQ mutations among the existing cases seem to be varied, and the relationship between genotypes and phenotypes is unclear. Our data here further prove the important role of PTPRQ in auditory function and provide more information for the further mechanism research of PTPRQ-related hearing loss.
References
May 15, 1994·Structure·I D Campbell, C Spitzfaden
Sep 3, 1998·The Journal of Biological Chemistry·M B WrightD F Bowen-Pope
Dec 4, 2001·Biochimica Et Biophysica Acta·T Takenawa, T Itoh
Jun 13, 2003·Proceedings of the National Academy of Sciences of the United States of America·A OganesianD F Bowen-Pope
Jan 17, 2004·Structure·David CraigViola Vogel
Oct 12, 2004·Neuron·Moritoshi HironoPeter G Gillespie
May 19, 2006·The New England Journal of Medicine·Cynthia C Morton, Walter E Nance
Apr 17, 2008·Cell Motility and the Cytoskeleton·Hirofumi SakaguchiBechara Kachar
Mar 30, 2010·American Journal of Human Genetics·Margit SchradersHannie Kremer
May 18, 2010·Journal of Medical Genetics·Hashem ShahinTom Walsh
Feb 24, 2012·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Richard J GoodyearGuy P Richardson
Jan 6, 2015·Molecular Genetics and Genomics : MGG·Qing SangLei Wang
Mar 20, 2015·The Annals of Otology, Rhinology, and Laryngology·Naoko SakumaShin-Ichi Usami
Apr 29, 2015·PloS One·Xue GaoPu Dai
Citations
Nov 17, 2019·Genes·Edmond Tingang WonkamAmbroise Wonkam
Oct 28, 2019·Journal of Translational Medicine·Dominika OziębłoMonika Ołdak
Dec 13, 2019·Neural Plasticity·Yue QiuWei-Jia Kong
May 1, 2021·Genes·Regie Lyn P Santos-CortezCharlotte M Chiong
May 18, 2021·BioMed Research International·Umair MahmoodSaima Riazuddin