Article
GJB2-associated hearing loss undetected by hearing screening of newborns.
Gene - 10 Dec 2013
Minami Shujiro B, Mutai Hideki, Nakano Atsuko, Arimoto Yukiko, Taiji Hidenobu, Morimoto Noriko, Sakata Hideaki, Adachi Nodoka, Masuda Sawako, Sakamoto Hirokazu, Yoshida Haruo, Tanaka Fujinobu, Morita Noriko, Sugiuchi Tomoko, Kaga Kimitaka, Matsunaga Tatsuo
Abstract excerpt
The hearing loss caused by GJB2 mutations is usually congenital in onset, moderate to profound in degree, and non-progressive. The objective of this study was to study genotype/phenotype correlations and to document 14 children with biallelic GJB2 mutations who passed newborn hearing screening (NHS). Genetic testing for GJB2 mutations by direct sequencing was performed on 924 individuals (810 families) with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.