Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Here, we report a novel deletion (copy number variation: CNV) in the GJB2 gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the GJB2 gene, but the GJB6 gene remained intact. This partial deletion in the GJB2 gene highlights the need for further improvemen...

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Detalles Bibliográficos
Autores principales: Abe, Satoko, Nishio, Shin‐ya, Yokota, Yoh, Moteki, Hideaki, Kumakawa, Kozo, Usami, Shin‐ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230644/
https://www.ncbi.nlm.nih.gov/pubmed/30455902
http://dx.doi.org/10.1002/ccr3.1800
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author Abe, Satoko
Nishio, Shin‐ya
Yokota, Yoh
Moteki, Hideaki
Kumakawa, Kozo
Usami, Shin‐ichi
author_facet Abe, Satoko
Nishio, Shin‐ya
Yokota, Yoh
Moteki, Hideaki
Kumakawa, Kozo
Usami, Shin‐ichi
author_sort Abe, Satoko
collection PubMed
description Here, we report a novel deletion (copy number variation: CNV) in the GJB2 gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the GJB2 gene, but the GJB6 gene remained intact. This partial deletion in the GJB2 gene highlights the need for further improvements in GJB2 screening.
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spelling pubmed-62306442018-11-19 Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss Abe, Satoko Nishio, Shin‐ya Yokota, Yoh Moteki, Hideaki Kumakawa, Kozo Usami, Shin‐ichi Clin Case Rep Case Reports Here, we report a novel deletion (copy number variation: CNV) in the GJB2 gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the GJB2 gene, but the GJB6 gene remained intact. This partial deletion in the GJB2 gene highlights the need for further improvements in GJB2 screening. John Wiley and Sons Inc. 2018-09-21 /pmc/articles/PMC6230644/ /pubmed/30455902 http://dx.doi.org/10.1002/ccr3.1800 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Abe, Satoko
Nishio, Shin‐ya
Yokota, Yoh
Moteki, Hideaki
Kumakawa, Kozo
Usami, Shin‐ichi
Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss
title Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss
title_full Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss
title_fullStr Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss
title_full_unstemmed Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss
title_short Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss
title_sort diagnostic pitfalls for gjb2‐related hearing loss: a novel deletion detected by array‐cgh analysis in a japanese patient with congenital profound hearing loss
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230644/
https://www.ncbi.nlm.nih.gov/pubmed/30455902
http://dx.doi.org/10.1002/ccr3.1800
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