Open AccessDiagnostic pitfalls for GJB 2 ‐related hearing loss: A novel deletion detected by Array‐ CGH analysis in a Japanese patient with congenital profound hearing loss
Author(s) -
Abe Satoko,
Nishio Shinya,
Yokota Yoh,
Moteki Hideaki,
Kumakawa Kozo,
Usami Shinichi
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1800
Subject(s) - medicine , hearing loss , audiology , congenital hearing loss , profound hearing loss , sensorineural hearing loss
Key Clinical Message Here, we report a novel deletion (copy number variation: CNV) in the GJB 2 gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the GJB 2 gene, but the GJB 6 gene remained intact. This partial deletion in the GJB 2 gene highlights the need for further improvements in GJB 2 screening.