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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE; DOOFNL Consortium; Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H. Wesdorp M, et al. Among authors: feenstra i. Am J Hum Genet. 2018 Jul 5;103(1):74-88. doi: 10.1016/j.ajhg.2018.05.011. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961571 Free PMC article.
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Wesdorp M, Schreur V, Beynon AJ, Oostrik J, van de Kamp JM, Elting MW, van den Boogaard MH, Feenstra I, Admiraal RJC, Kunst HPM, Hoyng CB, Kremer H, Yntema HG, Pennings RJE, Schraders M. Wesdorp M, et al. Among authors: feenstra i. Clin Genet. 2018 Aug;94(2):221-231. doi: 10.1111/cge.13368. Epub 2018 Jun 8. Clin Genet. 2018. PMID: 29676012
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. Among authors: feenstra i. Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008. Ear Hear. 2014. PMID: 24378291 Free PMC article.
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P; DOOFNL Consortium; Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H. Smits JJ, et al. Among authors: feenstra i. Hum Genet. 2019 Jan;138(1):61-72. doi: 10.1007/s00439-018-1965-1. Epub 2018 Dec 8. Hum Genet. 2019. PMID: 30535804 Free PMC article.
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG. Zazo Seco C, et al. Among authors: feenstra i. Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000701 Free PMC article.
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