A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

Background: Hereditary hearing loss is a disorder with high genetic and allelic heterogeneity. Diagnostic screening of candidate genes commonly yields novel variants of unknown clinical significance. TBC1D24 is a pleiotropic gene associated with recessive DOORS syndrome, epileptic encephalopathy, my...

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Bibliographic Details
Main Authors: Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Juergen Neesen, Franco Laccone, Julia Eckl-Dorna, Jonathan J. Waters, Markus Schreiner, Sami Samir Amr, Emma Ashton, Christian Schoefer, Wolfgang Gstœttner, Klemens Frei, Trevor Lucas
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Cellular Neuroscience
Subjects:
TBC1D24
DFNA65
genotype-phenotype association
exome sequencing
autosomal dominant
nonsyndromic
Online Access:https://www.frontiersin.org/articles/10.3389/fncel.2020.585669/full

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https://www.frontiersin.org/articles/10.3389/fncel.2020.585669/full

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