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Akademický článek

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss

Autor: Wei-Qian Wang, Xue Gao, Sha-Sha Huang, Dong-Yang Kang, Jin-Cao Xu, Kun Yang, Ming-Yu Han, Xin Zhang, Su-Yan Yang, Yong-Yi Yuan, Pu Dai

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Non-syndromic hearing loss (NSHL) is a common neurosensory disease with an extreme genetic heterogeneity which has been linked to variants in over 120 genes. The LOXHD1 gene (DFNB77), encoding lipoxygenase homology domain 1, is a rare hearing loss ge

Externí odkaz: https://doaj.org/article/8200fee61a924fe18a3843265aff5619

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Akademický článek

Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Autor: Na Shen, Ting Wang, Delei Li, Aiguo Liu, Yanjun Lu

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)

Abstract Background Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense var

Externí odkaz: https://doaj.org/article/deca12b0d0004a34a5c0fb6da7f86cb8

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Akademický článek

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A novel

Autor: Chuan, Zhang, Shengju, Hao, Yali, Liu, Bingbo, Zhou, Furong, Liu, Lei, Zheng, Panpan, Ma, Qing, Liu, Xiaojuan, Lin, Yousheng, Yan, Qinghua, Zhang

Publikováno v: The Journal of International Medical Research

Objective To perform molecular diagnosis and genetic counseling in a young Chinese couple with congenital hearing loss. Methods Variant screening analysis was performed by PCR and direct Sanger sequencing or targeted next-generation sequencing of all

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6bb6b682b507c12158e31deee700a62a
https://pubmed.ncbi.nlm.nih.gov/31709873

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Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort

Autor: Shinichiro Oka, Shin-ichi Usami, Chie Oshikawa, Mayuri Okami, Shin Ichi Goto, Satoshi Iwasaki, Naoko Sakuma, Yohei Honkura, Karuna Maekawa, Yumiko Kobayashi, Masayuki Shirakura, Hajime Sano, Yukihiko Kanda, Satoko Abe, Shin-ya Nishio, Natsumi Uehara

Publikováno v: Genes, Vol 10, Iss 10, p 735 (2019)
Genes
Volume 10
Issue 10

Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f44594faf1007e168b5279391e89171f
https://www.mdpi.com/2073-4425/10/10/735

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Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Autor: Aiguo Liu, Yanjun Lu, Delei Li, Na Shen, Ting Wang

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Medical Genetics

Background Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense variant of L

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::545194fe93ac2dbe75f16fe018bf7f11
https://doi.org/10.1186/s12881-019-0758-2

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Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy

Autor: Vivian Schreur, Margit Schraders, Ilse Feenstra, J.M. van de Kamp, M. J. van den Boogaard, Henricus P. M. Kunst, Mariet W. Elting, Carel B. Hoyng, Ronald J.E. Pennings, Mieke Wesdorp, Hannie Kremer, Ronald J.C. Admiraal, Andy J. Beynon, Helger G. Yntema, Jaap Oostrik

Publikováno v: Clinical Genetics, 94(2), 221-231. Wiley-Blackwell
Clinical Genetics, 94(2), 221. Wiley-Blackwell
Clinical Genetics, 94, 221-231
Wesdorp, M, Schreur, V, Beynon, A J, Oostrik, J, van de Kamp, J M, Elting, M W, van den Boogaard, M J H, Feenstra, I, Admiraal, R J C, Kunst, H P M, Hoyng, C B, Kremer, H, Yntema, H G, Pennings, R J E & Schraders, M 2018, ' Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy ', Clinical Genetics, vol. 94, no. 2, pp. 221-231 . https://doi.org/10.1111/cge.13368
Clinical Genetics, 94, 2, pp. 221-231

This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6975add814c362d086cf31bd402d7cb
https://doi.org/10.1111/cge.13368

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