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

ABSTRACT: 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.

SUBMITTER: Abe S 

PROVIDER: S-EPMC6230644 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

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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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