Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.
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ABSTRACT:
SUBMITTER: Abe S
PROVIDER: S-EPMC6230644 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Publications
Diagnostic pitfalls for <i>GJB2</i>-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.
Abe Satoko S Nishio Shin-Ya SY Yokota Yoh Y Moteki Hideaki H Kumakawa Kozo K Usami Shin-Ichi SI
Clinical case reports 20180921 11
Here, we report a novel deletion (copy number variation: CNV) in the <i>GJB2</i> gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the <i>GJB2</i> gene, but the <i>GJB6</i> gene remained intact. This partial deletion in the <i>GJB2</i> gene highlights the need for further improvements in <i>GJB2</i> screening. ...[more]
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