|
KMID : 0361020220650110718
|
|
Korean Journal of Otolaryngology - Head and Neck Surgery
2022 Volume.65 No. 11 p.718 ~ p.721
|
|
|
A Case of a Novel Noggin (NOG) Gene Mutation in Congenital Hearing Loss
|
|
Kim Ji-Yeon
Kim Yeon-Ji
Han Jae-Sang
Park Shi-Nae
|
|
|
Abstract
|
|
|
|
Congenital stapedial fixation is a type of conductive hearing loss in which impairment of thesound-conduction mechanism is caused by congenital or acquired fixation of the stapes. It isgenetically heterogeneous, but it has been recently reported to be also caused by mutations inthe Noggin (NOG) gene. The authors have experienced a 6-year old boy with bilateral mixedhearing loss, who has a family history of hearing loss. No stapedial reflex was observed, andtemporal bone CT showed no abnormality in the middle ear, as well as in the ossicles. Geneticstudy revealed novel NOG gene mutations, which have never been reported before as a relevantgene mutation for congenital hearing loss related with stapedial fixation. Under the possiblediagnosis of congenital stapedial fixation with mixed hearing loss caused by NOG genemutations, the patient has started to wear bilateral hearing aids and is being followed up forpossible surgical therapy. Here, we report this case of congenital mixed hearing loss caused bynovel NOG gene mutations with a review of the literatures.
|
|
|
KEYWORD
|
|
|
Hearing loss, Noggin protein, NOG-related-symphalangism spectrum disorder
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|