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Page 1
Genetic Hearing Loss Overview.
Shearer AE, Hildebrand MS, Odell AM, Smith RJH. Shearer AE, et al. 1999 Feb 14 [updated 2025 Apr 3]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 1999 Feb 14 [updated 2025 Apr 3]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301607 Free Books & Documents. Review.
Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.
Sakuma N, Nishio SY, Goto SI, Honkura Y, Oda K, Takeda H, Kobayashi M, Kumakawa K, Iwasaki S, Takahashi M, Ito T, Arai Y, Isono Y, Obara N, Matsunobu T, Okubo K, Usami SI. Sakuma N, et al. Genes (Basel). 2024 Apr 12;15(4):489. doi: 10.3390/genes15040489. Genes (Basel). 2024. PMID: 38674423 Free PMC article.
To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-associated hearing loss (HL) remain unclear. ...We identified 17 possibly disease-causing PTPRQ variants in 13 Japanese patients, wit …
To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ- …
PTPRQ as a potential biomarker for idiopathic normal pressure hydrocephalus.
Nagata Y, Bundo M, Sugiura S, Kamita M, Ono M, Hattori K, Yoshida S, Goto YI, Urakami K, Niida S. Nagata Y, et al. Mol Med Rep. 2017 Sep;16(3):3034-3040. doi: 10.3892/mmr.2017.7015. Epub 2017 Jul 15. Mol Med Rep. 2017. PMID: 28714010 Free PMC article.
ELISA analysis indicated that the PTPRQ concentration in the CSF was significantly higher in patients with iNPH compared with those with AD. In addition, the PTPRQ concentration in the CSF of non-responders to shunt operation (SNRs) tended to be relatively lower com …
ELISA analysis indicated that the PTPRQ concentration in the CSF was significantly higher in patients with iNPH compared with those w …
Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss.
Candelaria GTP, Antunes AA, Pastorino AC, Dorna MB, Zanardo EA, Dias AT, Sugayama SMM, Odone-Filho V, Kulikowski LD, Garanito MP. Candelaria GTP, et al. J Pediatr Genet. 2021 Aug 20;12(4):348-351. doi: 10.1055/s-0041-1733948. eCollection 2023 Dec. J Pediatr Genet. 2021. PMID: 38162163 Free PMC article.
Homozygous PTPRQ mutations impair the stereocilia in hair cells which lead to nonsyndromic sensorineural hearing loss (SNHL) with vestibular dysfunction. Here, we report two novel pathogenic homozygous mutations found in two genes, FERMT3 and PTPRQ , in a Brazilian …
Homozygous PTPRQ mutations impair the stereocilia in hair cells which lead to nonsyndromic sensorineural hearing loss (SNHL) with ves …
PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
Vanniya S P, Chandru J, Jeffrey JM, Rabinowitz T, Brownstein Z, Krishnamoorthy M, Avraham KB, Cheng L, Shomron N, Srisailapathy CRS. Vanniya S P, et al. Ann Hum Genet. 2022 Jan;86(1):1-13. doi: 10.1111/ahg.12442. Epub 2021 Aug 9. Ann Hum Genet. 2022. PMID: 34374074
(Asn540Ser), MYO15A p.(Leu1485Pro) and p.(Tyr1891Ter), PTPRQ p.(Gln1336Ter), and SLC12A2 p.(Pro988Ser). Compound heterozygous PNPT1 variants were associated with DFNB70 causing prelingual profound sensorineural hearing loss (SNHL), vestibular dysfunction, and unilateral pr …
(Asn540Ser), MYO15A p.(Leu1485Pro) and p.(Tyr1891Ter), PTPRQ p.(Gln1336Ter), and SLC12A2 p.(Pro988Ser). Compound heterozygous PNPT1 v …
Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss.
Hou Y, Shi Y, Liu L, Duan S. Hou Y, et al. Front Genet. 2024 Aug 14;15:1399760. doi: 10.3389/fgene.2024.1399760. eCollection 2024. Front Genet. 2024. PMID: 39205941 Free PMC article.
Variants in the PTPRQ gene have been implicated in hereditary sensorineural hearing loss. METHODS AND RESULTS: Utilizing next-generation sequencing technology, we identified novel compound heterozygous variants (c.977G>A:p.W326X and c.6742C>T:p.Q2248X) in the PTPR …
Variants in the PTPRQ gene have been implicated in hereditary sensorineural hearing loss. METHODS AND RESULTS: Utilizing next-generat …
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S, Tai FWJ, Delmaghani S, Lelli A, Singh-Estivalet A, Dupont T, Niasme-Grare M, Michel V, Wolff N, Bahloul A, Bouyacoub Y, Bouccara D, Fraysse B, Deguine O, Collet L, Thai-Van H, Ionescu E, Kemeny JL, Giraudet F, Lavieille JP, Devèze A, Roudevitch-Pujol AL, Vincent C, Renard C, Franco-Vidal V, Thibult-Apt C, Darrouzet V, Bizaguet E, Coez A, Aschard H, Michalski N, Lefevre GM, Aubois A, Avan P, Bonnet C, Petit C. Boucher S, et al. Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):31278-31289. doi: 10.1073/pnas.2010782117. Epub 2020 Nov 23. Proc Natl Acad Sci U S A. 2020. PMID: 33229591 Free PMC article.

Ultrarare variants (allele frequency [AF] < 0.0001) of 35 genes responsible for autosomal dominant early-onset forms of deafness, predicted to be pathogenic, were detected in 25.7% of mARHL and 22.7% of sARHL cases vs. 7.5% of controls (P = 0.001); half were previously unknown

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Ultrarare variants (allele frequency [AF] < 0.0001) of 35 genes responsible for autosomal dominant early-onset forms of deafness, predict

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First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
Oziębło D, Sarosiak A, Leja ML, Budde BS, Tacikowska G, Di Donato N, Bolz HJ, Nürnberg P, Skarżyński H, Ołdak M. Oziębło D, et al. J Transl Med. 2019 Oct 26;17(1):351. doi: 10.1186/s12967-019-2099-5. J Transl Med. 2019. PMID: 31655630 Free PMC article.
The study presented the only, so far known, PTPRQ pathogenic variant (c.6881G>A) in ADNSHL. It is located in the last PTPRQ coding exon and introduces a premature stop codon (p.Trp2294*). ...CONCLUSION: Our data provide the first confirmation of PTPRQ invo …
The study presented the only, so far known, PTPRQ pathogenic variant (c.6881G>A) in ADNSHL. It is located in the last PTPRQ …
High PTPRQ Expression and Its Relationship to Expression of PTPRZ1 and the Presence of KRAS Mutations in Colorectal Cancer Tissues.
Laczmanska I, Karpinski P, Gil J, Laczmanski L, Bebenek M, Sasiadek MM. Laczmanska I, et al. Anticancer Res. 2016 Feb;36(2):677-81. Anticancer Res. 2016. PMID: 26851024
RESULTS: We revealed a high level of PTPRQ expression (p=0.0080), as well as an association between expression levels of PTPRQ and PTPRZ1 (p<0.0001). ...CONCLUSION: We confirmed the contribution of PTPRZ1 and especially PTPRQ in CRC development, supporting …
RESULTS: We revealed a high level of PTPRQ expression (p=0.0080), as well as an association between expression levels of PTPRQ …
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ. Eisenberger T, et al. Genet Med. 2018 Jun;20(6):614-621. doi: 10.1038/gim.2017.155. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29309402 Free PMC article.
The highest logarithm of the odds score was in the PTPRQ-containing region on chromosome 12, and p.Trp2294* cosegregated with hearing loss. WES did not identify other cosegregating candidate variants from the mapped region. PTPRQ expression in patient fibroblasts in …
The highest logarithm of the odds score was in the PTPRQ-containing region on chromosome 12, and p.Trp2294* cosegregated with hearing …
75 results