Open AccessGenes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations
Author(s) -
Elina Kari,
Lorida Llaci,
John L. Go,
Marcus Naymik,
James A. Knowles,
Suzanne M. Leal,
Sampathkumar Rangasamy,
Matthew J. Huentelman,
Winnie S. Liang,
Rick A. Friedman,
Isabelle Schrauwen
Publication year - 2020
Publication title -
ear and hearing
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.577
H-Index - 109
eISSN - 1538-4667
pISSN - 0196-0202
DOI - 10.1097/aud.0000000000000819
Subject(s) - inner ear , medicine , hearing loss , cochlear nerve , neural crest , etiology , population , anatomy , neuroscience , pathology , cochlea , audiology , biology , genetics , gene , environmental health
A small subset of children with congenital hearing loss have abnormal cochleovestibular nerves (i.e., absent, aplastic, or deficient cochlear nerves), with largely unknown etiology. Our objective was to investigate the underlying pathways and identify novel genetic variants responsible for cochleovestibular malformations and nerve abnormalities. It is our hypothesis that several cochleovestibular nerve abnormalities might share common causative pathways.