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Page 1
OTOGL, a gelforming mucin protein, is nonessential for male germ cell development and spermatogenesis in mice.
Li Z, Zhang Y, Zhang X, Cao C, Luo X, Gui Y, Tang Y, Yuan S. Li Z, et al. Reprod Biol Endocrinol. 2021 Jun 26;19(1):95. doi: 10.1186/s12958-021-00779-0. Reprod Biol Endocrinol. 2021. PMID: 34174893 Free PMC article.
We thus generated a global Otogl knockout mouse (KO) model using the CRISPR/Cas9 technology; however, Otogl KO mice displayed normal development and fertility. Further histological analysis of Otogl knockout mouse testes revealed that all types of spermatogen …
We thus generated a global Otogl knockout mouse (KO) model using the CRISPR/Cas9 technology; however, Otogl KO mice displayed …
[Analysis of OTOGL gene variants in a child with moderate non-syndromic hearing loss].
Ren S, Kong X. Ren S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Aug 10;38(8):761-764. doi: 10.3760/cma.j.cn511374-20200606-00414. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34365619 Chinese.
RESULTS: The child was found to harbor biallelic variants of the OTOGL gene, namely c.2773C>T (p.Arg925Ter) and c.2826C>G (p.Tyr942Ter), which were respectively inherited from his phenotypically normal father and mother. ...CONCLUSION: The c.2773C>T (p.Arg925Ter) …
RESULTS: The child was found to harbor biallelic variants of the OTOGL gene, namely c.2773C>T (p.Arg925Ter) and c.2826C>G (p.Ty …
The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.
Barake R, Abou-Rizk S, Nemer G, Bassim M. Barake R, et al. Genet Test Mol Biomarkers. 2017 Jul;21(7):445-449. doi: 10.1089/gtmb.2016.0406. Epub 2017 Apr 20. Genet Test Mol Biomarkers. 2017. PMID: 28426234
Results of DNA analysis showed the presence of a previously described p.Arg925* mutation in the OTOGL gene on both alleles in affected family members, whereas nonaffected members either had the wild type or one copy of the mutated allele. DISCUSSION: Mutations affecting th …
Results of DNA analysis showed the presence of a previously described p.Arg925* mutation in the OTOGL gene on both alleles in affecte …
Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss.
Pan C, Li J, Wang S, Shi C, Zhang Y, Yu Y. Pan C, et al. Gene. 2022 Jan 15;808:146000. doi: 10.1016/j.gene.2021.146000. Epub 2021 Oct 6. Gene. 2022. PMID: 34626719
Two novel heterozygous mutations were found in the OTOGL gene. The c.5038del (p.D1680Ifs*6) variant was inherited from the father, and the c.2770C > T (p.R924X) variant from the mother. They enriched the mutation spectrum of OTOGL, which provides the basis for ge …
Two novel heterozygous mutations were found in the OTOGL gene. The c.5038del (p.D1680Ifs*6) variant was inherited from the father, an …
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M. Yariz KO, et al. Am J Hum Genet. 2012 Nov 2;91(5):872-82. doi: 10.1016/j.ajhg.2012.09.011. Am J Hum Genet. 2012. PMID: 23122586 Free PMC article.
OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mucin protein family. ...We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear …
OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mu …
[Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].
Feng ML, Huang SS, Tang FZ, Zhang X, Li XH, Qiu SW, Yuan YY. Feng ML, et al. Zhonghua Yi Xue Za Zhi. 2021 Jan 12;101(2):115-121. doi: 10.3760/cma.j.cn112137-20200912-02628. Zhonghua Yi Xue Za Zhi. 2021. PMID: 33455126 Chinese.
The reported pathogenic variants of the otogelin-like (OTOGL) gene, the autosomal recessive inherited deafness genes that cause moderate sensorineural hearing loss and the clinical manifestations of the deafness genes that have the similar expression location as the OTO …
The reported pathogenic variants of the otogelin-like (OTOGL) gene, the autosomal recessive inherited deafness genes that cause moder …
Similar phenotypes caused by mutations in OTOG and OTOGL.
Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ. Oonk AM, et al. Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008. Ear Hear. 2014. PMID: 24378291 Free PMC article.
OBJECTIVES: Recently, OTOG and OTOGL were identified as human deafness genes. Currently, only four families are known to have autosomal recessive hearing loss based on mutations in these genes. ...Furthermore, the authors conclude that there are no phenotypic differences b …
OBJECTIVES: Recently, OTOG and OTOGL were identified as human deafness genes. Currently, only four families are known to have autosom …
Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss.
Gu X, Sun S, Guo L, Lu X, Mei H, Lai C, Li H. Gu X, et al. Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):817-820. doi: 10.1016/j.ijporl.2015.03.008. Epub 2015 Mar 18. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25829320
CONCLUSIONS: We identified novel biallelic OTOGL mutations in a Chinese DFNB family. To the best of our knowledge, this is the first report of OTOGL mutations causing hearing loss in the East Asian population. Our finding enriched the mutation spectrum of OTOGL …
CONCLUSIONS: We identified novel biallelic OTOGL mutations in a Chinese DFNB family. To the best of our knowledge, this is the first …
Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.
Bonnet C, Louha M, Loundon N, Michalski N, Verpy E, Smagghe L, Hardelin JP, Rouillon I, Jonard L, Couderc R, Gherbi S, Garabedian EN, Denoyelle F, Petit C, Marlin S. Bonnet C, et al. Gene. 2013 Sep 25;527(2):537-40. doi: 10.1016/j.gene.2013.06.044. Epub 2013 Jul 11. Gene. 2013. PMID: 23850727
We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. Parental genotypes allowed us to c …
We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg …
24 results